SNP ID,Chr.,Strand,Position,WT sequence,SNP,AA substitution,Mutation type,Gene name
rs869312163,X,-,101398032,GCCTGGGCTGTAGCTATGATAAACCGGCAGGAGATTGGTGGACCTCGCTCT,G>A,R>Q,missense,GLA
rs886039808,12,-,88083848,CTAAATAAATTCAAACAAACGGCTTGGGTAAGATTCTAAGAACTTTGTTCC,G>A,W>*,stop-gained,CEP290
rs540911439,11,+,89191358,TGTAGAATTTTGCCTGAGTTTGACCCAATATGAATCTGGTTCCATGGATAA,C>T,Q>*,stop-gained,TYR
rs281874706,X,+,108568638,TTATTTCTTCTTATAGGGTCCTCCTGGACTTCCTGGATTTCCAGGGACACC,G>A,G>R,missense,COL4A5
rs730881238,5,+,112835074,ATTTTTGGTTGGCACTCTTACTTACCGGAGCCAGACAAACACTTTAGCCAT,C>T,R>W,missense,APC
rs372659908,6,-,135433081,GAGAGAAGATTCTGCCATATTGGTCCGACAGTTTGATGTTCACAAAAGTTT,C>T,R>*,stop-gained,AHI1
rs118204027,22,+,37724297,AGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTC,C>T,Q>*,stop-gained,TRIOBP
rs1057516426,17,+,80112033,GGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCT,C>T,Q>*,stop-gained,GAA
rs1410159094,9,+,34649443,ACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCTCAT,G>A,W>*,stop-gained,GALT
rs527236107,8,-,10612126,CTCACCCAGCAGCCCTGGCCTTGGCCGAGTGGCCCCGAGAGGCCATCCCAG,C>T,R>*,stop-gained,RP1L1
rs121912858,2,-,227032253,AGGTTTGCATGATGTGGGGCCACCTGGTCCAGTGGGAATACCTGGGCTAAA,G>A,G>S,missense,COL4A4
rs886041227,X,+,22247942,GATGAACAGAGGCATGGACTCCTGCCGACTCTGGTAGCTGGGACGCTGGTT,C>T,R>*,stop-gained,PHEX
rs281865107,10,+,102065697,GCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTT,C>T,Q>*,stop-gained,HPS6
rs121434427,1,+,161209912,GCCCGAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGTGAGC,G>A,R>Q,missense,NDUFS2
rs527236148,17,-,63971201,CAACATCTCAGCCCTGAGGACCTTCCGGGTGCTGCGGGCCCTCAAAACCAT,C>T,R>W,missense,SCN4A
rs312262801_2,1,-,119917685,TTTGTTGTTGAAAAATGGGGCCAACCGAGACATGCAGGACAACAAGGTACA,C>T,R>*,stop-gained,NOTCH2
rs773906955,17,-,35107026,AGGGCTGACAGCTTCCCGCCTCCTCCAGCTGCTTCAGGCTAAAACCCAGGA,C>T,Q>*,stop-gained,RAD51D
rs121909636,8,-,38414569,ATTATTTGACCGGATCTACACCCACCAGAGTGATGTGTGAGTTTGTAATAG,C>T,Q>*,stop-gained,FGFR1
rs1057517822,1,-,42930724,GTACTGCGGCCTGACCACAGGCTTCGTGCCCATGTATGTGGGTGAAGTGTC,G>A,V>M,missense,SLC2A1
rs869312914,14,-,67752520,ATGTTGTGTTCTGTTCTAGGACTTCCAGCTGGATGCTGCCATGACCTACTG,C>T,Q>*,stop-gained,ZFYVE26
rs1131691302,3,+,11028740,TTTTGCACTTCTCTGTTCAGGCCCCGGGCTGGCGTTCCTGGCATACCCAGA,G>A,G>R,missense,SLC6A1
rs794729382,2,-,178570804,AGCTAGAGATGAGGTAGATCCACCACGAATAAGTATGGATCCAAAATACAA,C>T,R>*,stop-gained,TTN
rs794727152,2,+,165342465,GGATTGTCAGTTCTCCGATCATTCCGGCTGGTAAATTAACTGGGAGTGTTC,G>A,R>Q,missense,SCN2A
rs148737918,1,+,100468051,AATAATTGCTTGGATTAGAATATGCCGGCCAGGCTCTATTATAGGACCCCA,C>T,R>W,missense,CDC14A
rs121909248,4,-,110621166,GACCAACCTTACGGAAGCCCGAGTCCGGGTAGGAGCCAGCACGGAGTCTGG,C>T,R>W,missense,PITX2
rs752792782_1,17,+,28734897,TGTGCACACCCACCTCATCCTGCACCGAGACCTCAAGACCCAGAACATCCT,C>T,R>*,stop-gained,NEK8
rs559955121,3,+,9917355,GTTCTTGCTGTCCTTGGCACTGGGCCGAAGCCCAGTGGTCCTTTCTCTGGA,C>T,R>*,stop-gained,IL17RC
rs863224938,12,-,49186333,CATTGGCAAGGAGATCATTGACCTCGTGTTGGACCGAATTCGCAAGCTGGT,G>A,V>M,missense,TUBA1A
rs398123281,17,+,42537517,AATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAG,G>A,W>*,stop-gained,NAGLU
rs1057524302,2,-,196307939,CATACAGCAAATGGAGCAGCTGAACCGGCGGTGAGGATGAACATTTTGCTG,C>T,R>W,missense,HECW2
rs5030821,3,+,10149823,AAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTAC,G>A,R>Q,missense,VHL
rs1131691065,11,+,112089011,GCAGCCCTCACTCTTCATGGTCACTGGCAAGTATAGCAATTCCAAATATAG,G>A,W>*,stop-gained,SDHD
rs63749923,3,+,37028902,TAACCTCACTAGTGTTTTGAGTCTCCAGGAAGAAATTAATGAGCAGGGACA,C>T,Q>*,stop-gained,MLH1
rs878855234,1,+,156135304,CCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCAC,C>T,Q>*,stop-gained,LMNA
rs111033198,11,+,77211170,CTGACAGGAGTTGCCCAAGTATCTCCGAGGCTACCACAAGTGCACGCGGGA,C>T,R>*,stop-gained,MYO7A
rs1064795638,3,-,52403251,CTCCATCAGACCAATCCAAGGCAGCCAGGGGTCCAGCAGCCCAGTGGAGAA,C>T,Q>*,stop-gained,BAP1
rs770279237,17,+,1728245,CGGGCTCTATGTGACTGAGTCTCCCCAGCCCCAGGAGGCTGAGGCTGTGAG,C>T,Q>*,stop-gained,WDR81
rs886041853,X,+,22099013,TGTTCTCTCTCCCCTCAGTTCGACTGGCTGGGCTACATCAAGAAGGTCATT,G>A,W>*,stop-gained,PHEX
rs398122392_0,2,-,208128258,CAAGAGTACAGGCGGTGCCAGGACTGGGGGGCCATGGATGCTAAGGCAGGC,G>A,W>*,stop-gained,CRYGC
rs1085307512,X,+,83508556,CACACTGGCCACCAGCCCCCTGGACCAGCAGGACGTGAAGCCCGGGCGCGA,C>T,Q>*,stop-gained,POU3F4
rs41341748_1,8,-,16155085,AGGTCCCACTGGAGAAAGTGGTCCACGAGGATTTCCAGGTCCAATAGGTAT,C>T,R>*,stop-gained,MSR1
rs72645321,17,-,50197045,TCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAA,G>A,G>R,missense,COL1A1
rs756898971,19,+,38192203,GCAACCGAGGTTGAGGGCATCCCTCCGAGACCTCCGGTCACCACGGAAGAA,C>T,R>*,stop-gained,SIPA1L3
rs121912839,3,-,48572712,GTCACCAGGTCTGCCTGGCCCTGTCGGACCTAAAGGAGAACCTGGCCCCAC,G>A,G>R,missense,COL7A1
rs763481375_1,2,-,215011631,CTCACAGGCAATGTACAGAAGCAACCGAATGAACACACCACAAGGATCATT,C>T,R>*,stop-gained,ABCA12
rs760126773,16,-,3594476,CGCCCACAAGTTCGTGCTTTATGCCCGATGCCCGCTCCTCATCCAGTATGT,C>T,R>*,stop-gained,SLX4
rs113871094,15,-,48465820,TCTTTGTCCTGGAGGGGAAGGTTTCCGACCAAATCCTATCACCGTTATATT,C>T,R>*,stop-gained,FBN1
rs387907067,10,+,71362267,GTACAACTTTGCTGACCTATGTGGCCGGCAGCTCACCGCCTGGATCCAGGT,C>T,R>W,missense,SLC29A3
rs118204043,6,+,116628175,TAATTATTTACGAGCACAAATTGCCCGAATTTCAGCAGGAACCCACGTCAG,C>T,R>*,stop-gained,RSPH4A
rs121434219,11,+,108365476,GGCCATAGACCCCAAAAATCTCAGCCGACTTTTCCCAGGATGGAAAGCTTG,C>T,R>*,stop-gained,ATM
rs753744791,17,+,39665828,GCTGATGATGCGGATGGGCATCCTCGGCCGTGGGCTGCAGGAGTACCAGCT,G>A,G>S,missense,TCAP
rs11558261,14,-,94382823,AGACAGCCAGCTCCAGCTGACCACCGGCAATGGCCTGTTCCTCAGCGAGGG,G>A,G>S,missense,SERPINA1
rs62638197,5,-,178994808,GGCCTGACGCTGGGCGGCCTGTTCCCGGTGCACGCGCGGGGCGCGGCGGGC,C>T,P>L,missense,GRM6
rs778424518_1,19,+,11113312,CCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACC,C>T,H>H,synonymous-codon,LDLR
rs138947766_0,19,+,11116883,GATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCCAAACTTCACTCCATC,G>A,W>*,stop-gained,LDLR
rs149827237,2,+,71515716,CGCTGCAGGGCAGACCAAGCGGACGCGGATCCACAAGGGAAACAGCCCACT,C>T,R>W,missense,DYSF
rs61753185,11,+,89178183,TTTCCCTTCACAGGGGTGGATGACCGGGAGTCGTGGCCTTCCGTCTTTTAT,G>A,R>Q,missense,TYR
rs863223919_1,10,+,100989177,CTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTT,C>T,R>*,stop-gained,TWNK
rs119481075,9,-,96254906,GGACTCAATGTTGTCCTTATTAGCCGGACGCTGGAAAAACTAGAGGCCATT,G>A,R>Q,missense,HSD17B3
rs1057519831,16,+,81912655,AGAGGACATGCTGATGAGGATTCCCCGGGACGGGGCCTTCCTGATCCGGAA,C>T,R>W,missense,PLCG2
rs886039453,2,+,218890349,CGCGAGAATGAGGCTTCACAACAACCGAGTTGGGAGGCAGGTGAGAGCCCC,C>T,R>*,stop-gained,WNT10A
rs80358367,5,+,36955540,TACAAAGAGCCTTCTCTTTAATGCACGAATAGCAGAAGAGGTGAACTGCCT,C>T,R>*,stop-gained,NIPBL
rs794728799,1,+,237793906,TTTTAAGCGAGAAAAGGAAGTGGCACGGAAATTGGAATTTGATGGGCTTTA,C>T,R>W,missense,RYR2
rs183161718,12,+,120739339,GGCATGGGCTACGTGACAGAGATGCCGGCAGAGCGGCACTACCGCGACGCC,C>T,P>L,missense,ACADS
rs386134243_1,1,+,156135967,ACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCG,C>T,R>W,missense,LMNA
rs864309672,8,-,143933998,ACCAGGCCGACGCCCTGCTGCAGTCGGTGAGGGGGTGTGGGGCAGGCAGTG,G>A,S>S,synonymous-codon,PLEC
rs1060503355,5,+,112842570,AAGTAGACCTATACAGTCTCCTGGCCGAAACTCAATTTCCCCTGGTAGAAA,C>T,R>*,stop-gained,APC
rs121909114,1,+,150511784,ACTGATCCAGCTGGAGAGGGAGTTCCAGCGCTGCTGCCGCCAGGGGAACAA,C>T,Q>*,stop-gained,ECM1
rs80358659,13,+,32338466,CAACATATGTCTTAAATTATCTGGCCAGTTTATGAAGGAGGGAAACACTCA,C>T,Q>*,stop-gained,BRCA2
rs144809928,9,-,96235548,AAGGCGGGCTTTCTGAGCCTGATCCCGGCCTGGGCCTTCTACAGCGGTGCC,C>T,P>L,missense,HSD17B3
rs869025619_1,3,+,10142064,CTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCC,C>T,Q>*,stop-gained,VHL
rs128621193,X,-,101360581,AAGCAACTTACCATGGTGGAGAGCACGAGATAAAAATGGGTGAGTCCACAC,C>T,R>*,stop-gained,BTK
rs398124224,X,+,136012979,AAAGTTCACCAAATTACGGGAGTTCCAGTTGTTGGAGACAGGCCTGTTCTT,C>T,Q>*,stop-gained,SLC9A6
rs762281715,1,-,21833551,CAACATGCTGATGCTGCCCTCAGTCCGACCCCAGGACGCAGGTACCTACGT,C>T,R>*,stop-gained,HSPG2
rs201850378,18,+,21815724,TGATTTGAATGCTCGAAACAAGCGCCGACAGACACCACTTCATATTGCTGT,C>T,R>*,stop-gained,MIB1
rs794728208,15,-,48485374,AATGCCTGACCAGAGATCATGCACCGGTGAGTAGGTTCTAGCCTCATGTTG,G>A,D>N,missense,FBN1
rs397516456,1,-,201365298,AGCGGTCCACCCACAGGACATCCACCGGAAGCGCATGGAGAAGGACCTGAA,C>T,R>W,missense,TNNT2
rs386833517_1,9,-,6604637,ACCCCATGCAGCATTTTTTGCTGTCCGAGAAAGCTTGGTGAGAATGATGCC,C>T,R>*,stop-gained,GLDC
rs869312118,2,-,178562617,ACAAGAAGGATGTTCTTACTACTTCCGAGTCTTGGCTTCCAATGAATATGG,C>T,R>*,stop-gained,TTN
rs137852638,1,-,119759915,TAATGCTCGTCCCACAGGTGGGGCCGGAGCTGTGGCTATGCTGATTGGGCC,G>A,G>R,missense,HMGCS2
rs1273181642,16,-,56510004,TGTTGGATCTGAGGATTTTGATATCCGAGTTTTTAAGGAAGATGAGATTGT,C>T,R>*,stop-gained,BBS2
rs121907983,5,+,74720648,ATGTGTGATTTAAATTTTAGGCCTCGGGCAAGTGCTGTTGGTGAGAGACTC,G>A,R>Q,missense,HEXB
rs918627824,1,-,155295709,GCGCCTCAAGGAGATGATCAAGGCCGGGATGAACATTGCGCGACTCAACTT,G>A,G>R,missense,PKLR
rs372318863_1,4,+,121804718,TGCAATCGTGGCCTTATGTCATTTCCGAAGACCTGATGTCTCTGTCCAAGG,C>T,R>*,stop-gained,EXOSC9
rs114073621,11,-,64751346,CCGTGTCATCTTCCTGGAGAACTACCGAGTCTCACTGGCCGAGAAAGGTGG,C>T,R>*,stop-gained,PYGM
rs199422225,2,-,206146919,CTCTAAGCCCTATGCCTTTACTGCCCGGCCTTGGGAAACAAGGTATCTTTT,C>T,R>W,missense,NDUFS1
rs773242930,11,+,68936848,TGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGG,C>T,R>*,stop-gained,IGHMBP2
rs199473394,11,+,2570685,GTACGTGGTCCGCCTCTGGTCCGCCGGCTGCCGCAGCAAGTACGTGGGCCT,G>A,G>S,missense,KCNQ1
rs587779692,2,+,188994297,AGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCG,G>A,G>S,missense,COL3A1
rs104894804,X,+,68838684,AGACAAGCTGGACATCATCTGCCCCCGAGCAGAAGCAGGGCGGCCCTATGA,C>T,R>*,stop-gained,EFNB1
rs587784339,22,-,38115658,AGACCAGCTGGTGTGGCGGGCGGCCCGAAGCAGCGGGGCAGCTCCTACTTA,C>T,R>*,stop-gained,PLA2G6
rs267606958,17,+,47945963,CCAGATTGGGGCTGTGGTCAGCCACCAGAGTTCTGTGATCCCTGATCGGGA,C>T,Q>*,stop-gained,PNPO
rs121908640,9,+,130494983,CAAGGGCCAGGTGTACATCCTCGGCCGGGAGTCCCCACTGTCTCTCTACAA,C>T,R>W,missense,ASS1
rs769035623_0,15,-,72375740,GACCTGCTTTTCGGTTCCGGGTCTTGGCCCCGTCCTTACCTCACAGGTGAG,G>A,W>*,stop-gained,HEXA
rs1057516251,17,+,80104755,CCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCC,C>T,Q>*,stop-gained,GAA
rs386833890,19,-,35845702,TGCGTCAGCGTCAGCAGCAATCCGCCGGTCAACTTGTCCTGGGACAAGGAA,C>T,P>L,missense,NPHS1
rs762765702,19,+,48596914,GACCACCGTCGCGGGGCCTTCCTCCGGAAAGGTGCGGGGGTTCTGGGGTTC,G>A,R>Q,missense,SULT2B1
rs199472776,11,+,2587630,CTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCT,C>T,R>W,missense,KCNQ1
rs180177132,16,-,23621362,ACTATTATGAACAACATTGTTATTTGGTAAGCTTTCCCTCTAGGTCCTCAG,G>A,W>*,stop-gained,PALB2
rs121908723,20,-,44623039,CGGCATTCACCGTACTGTCCACGCCGGGGAGGTGGGCTCGGCCGAAGTAGT,G>A,G>R,missense,ADA
rs756651509,X,-,6151166,ACCCCCGTCCTCCTGGACTGGCATCCGAAATACTACTCAGTTTGCTGCTGT,C>T,R>*,stop-gained,NLGN4X
rs111033345,X,+,83508823,TGCACAGAGCCTGCACCCGGTGCTCCGAGAGCCCCCGGATCACGGCGAACT,C>T,R>*,stop-gained,POU3F4
rs28942097,3,+,46709164,CTGTGTCTTCAACTGTCGTGTGCCACGGACCCGGAAGGAGATCGAAGCCCG,C>T,R>W,missense,TMIE
rs397514263,2,-,211383719,TTTTTATAAACAGAATGGGCGGATCCGGCCTATTGTGGCAGAGAATCCTGA,C>T,R>W,missense,ERBB4
rs387906883_0,11,-,46875946,CTCAGGTTTATGTACTGGACAGACTGGGGGGAGAATGCCAAGTTAGAGCGG,G>A,W>*,stop-gained,LRP4
rs61046466,1,+,156114934,CCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGC,C>T,Q>*,stop-gained,LMNA
rs142546324,16,-,15718337,GGCAACATGGAGGCCATGAGCGACCGGGTCCGCAAAGCCACACAGCAGGTG,G>A,R>Q,missense,MYH11
rs797044516,11,+,77184715,AATGGCATCCTGCGGCCAGCACTCCGGTCAGTGCCGGGAGGCGGGGACACC,G>A,R>Q,missense,MYO7A
rs752924362_0,17,+,74309345,AGGATGGACGGAACCCTGGATATCTGGGACTTCATGTTCGAGCAGTGCGAT,G>A,W>*,stop-gained,DNAI2
rs121909284,12,+,51916219,CTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCCA,G>A,R>Q,missense,ACVRL1
rs863225064,18,-,45855683,GACCTCTCCCTAATGCCTAAGGTTCCGAGTGGTTGCCCGAAGCATGGCTGC,C>T,R>*,stop-gained,EPG5
rs201422368,1,-,111120539,TGGATCAGACTGTTGTTGGTTATCTGGTGTGGAGTAAGTGCACTTAGCAGT,G>A,W>*,stop-gained,DRAM2
rs199474751,17,+,31335026,TCAAGCAAAAATATGGGGAAGCCTTGGGCAGGTATTGAGTTTGCTCAAATA,G>A,G>R,missense,NF1
rs387906760,2,-,190995184,GTTGCGGAGAGTCTGCAGCAAGTTCGGCAGCAGCTTAAAAAGTTGGAGGAA,G>A,R>Q,missense,STAT1
rs778092738,2,+,71611329,TCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCG,C>T,Q>*,stop-gained,DYSF
rs886043521,21,+,45998951,GGACGAGGGAGAAGCCGGGGACCCCGGAGACGATGTAAGTGTGGATGGGAG,G>A,G>R,missense,COL6A1
rs80359080_0,13,+,32370433,GCTAACAGTACTCGGCCTGCTCGCTGGTATACCAAACTTGGATTCTTTCCT,G>A,W>*,stop-gained,BRCA2
rs797045993,X,-,53403617,CGGGAGATTGGTGTGCGCAACATCCGGGAGTTTGAGGAAGAAAAGGTGAAA,G>A,R>Q,missense,SMC1A
rs863224959,15,+,42402971,CCACCAGGAGGGGGAATTCATCCTCCGGGTCTTCTCTGAAAAGAGGAACCT,C>T,R>W,missense,CAPN3
rs121909011,7,+,117540230,TGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATT,C>T,R>W,missense,CFTR
rs121912569,4,-,148081460,GCTGGAATTCTGCTTCTACACCTTCCGAGAGTCCCATGCGCTGAAGGTAGA,C>T,R>*,stop-gained,NR3C2
rs587779780,5,+,112819245,TGACAAGAGAGGCAGGCGTGAAATCCGAGTCCTTCATCTTTTGGAACAGAT,C>T,R>*,stop-gained,APC
rs1175545518,13,-,23355651,TGTGCAGGATGTTTCCTTATATGTCCGAGAGGCTGACGGAACAGAGAAACT,C>T,R>*,stop-gained,SACS
rs1047747,16,+,5084828,GAACCTGCGGGAGTCGCAGCAGCTCCGATGGGATGAGAGCTGGGTGCAGAC,C>T,R>*,stop-gained,ALG1
rs151344629,1,+,247424492,CCCGAGGCCTCTCTGCTCATCACCACGAGACCTGTGGCCCTGGAGAAACTG,C>T,T>M,missense,NLRP3
rs121917965,2,-,166058652,ATTGAATAAAGGGAAGGCCATCTTCCGGTTCAGTGCCACCTCTGCCCTGTA,C>T,R>W,missense,SCN1A
rs104894194,11,+,67483198,CGCAAGACTCCGGGAGGACGGGATCCAAAAACGTGTGATACAGGAAGGCCG,C>T,Q>*,stop-gained,AIP
rs397515469,16,-,77434499,GTCACCTTTTCTCTTGCAGGCGCTCCAGCTGTGCTGCCTCTGCTGTGCGTC,C>T,Q>*,stop-gained,ADAMTS18
rs769348060,6,-,49459210,ACTATGGACTTACCTGAAGAACTTCCAGGAGTGAAGCCATTCACACGTGGA,C>T,P>L,missense,MUT
rs267606923,10,-,124405551,TTCCCCTTTGTAGCTGGGAACTTCTGGGGTAGGACGTTGTCTGCTATCTCC,G>A,W>*,stop-gained,OAT
rs730881701,22,-,28725278,ACTGCTGAAAAGAACAGATAAATACCGAACATACAGCAAGAAACACTTTCG,C>T,R>*,stop-gained,CHEK2
rs72646828,2,-,178598904,TTCAAAGAGATGGAAGAGAGTTAACCGAGATCCTATCAAAGCCATGACTTT,C>T,R>*,stop-gained,TTN
rs45517213,16,+,2072251,CTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGC,G>A,W>*,stop-gained,TSC2
rs267606882,M,+,6264,GCTCGCATCTGCTATAGTGGAGGCCGGAGCAGGAACAGGTTGAACAGTCTA,G>A,G>R,stop-gained,COX1
rs104894077,8,+,74361886,TTCCAAAATGTTTTTATTATCAGGCCAAATTGGAAACACAGAGTCTGAGCT,C>T,Q>*,stop-gained,GDAP1
rs7800847,7,-,144401541,AGGACCCGGGGAGGAGGAACTGCTCCGGGGCTCAGCCCCTCATGCTCAGGA,C>T,R>W,missense,NOBOX
rs781413815_1,12,+,31083891,ACAGAAGAAGCGTGAAGAAGAGGCACGACTCCTTGAAACTGGAACTGGCCC,C>T,R>*,stop-gained,DDX11
rs121908428,15,-,34243993,ACTTCGAACACCCAACTGGAGACCCCGATTCCGCTACTACCATTGGTAAGT,C>T,R>*,stop-gained,SLC12A6
rs766315644,5,+,132587637,CAATGAAATTAAAGCCTTGGATAGCCGAAAGAAGCAAATGGAGAAAGATAA,C>T,R>*,stop-gained,RAD50
rs878853978,2,-,189045800,GAGATGCAGGACAAAGAGGAGATCCGGTAAGGAGGGAGTCAATTTCACACT,G>A,P>P,synonymous-codon,COL5A2
rs797044947,13,+,110503855,CTCTGTTTCCCTTCCAGGTGCCCCCGGGACTGTGGGAGCCCCCGGGATTGC,G>A,G>R,missense,COL4A2
rs121912736,12,+,110342435,CCGCTACCTCATCTCGTCCAACGTCGGGGAAGTTGTCTGGTAGGTCTCTGT,G>A,G>R,missense,ATP2A2
rs68080670,2,-,178532039,ATGAGGCCAGTGTCTGAGCTGATCCGGTCACGTCCACAACCGGCTGAGGAA,G>A,R>Q,missense,TTN
rs61749747,X,-,154031098,GGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGG,C>T,Q>*,stop-gained,MECP2
rs886044402,X,-,32390103,ACATAATCAGGGGAAGGAGGCTGCCCAAAGAGTCCTGTCTCAGATTGATGT,C>T,Q>*,stop-gained,DMD
rs1057519537,9,+,127682423,TTTCTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGGCGAG,G>A,W>*,stop-gained,STXBP1
rs199476095,16,-,2089957,CGAGGCCCTGCTCACCCAGTTTGACCGACTCAACCAGGCCACAGAGGACGT,C>T,R>*,stop-gained,PKD1
rs766096417,15,+,71811831,CACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGG,G>A,R>Q,missense,NR2E3
rs886041771,X,-,154358524,CGTGGTAGACAACGCTGATGGCACCCAGACCGTCAATTATGTGCCCAGCCG,C>T,Q>*,stop-gained,FLNA
rs724159947,12,+,11869601,GACAACATGATCCGCCGCCTCTCCCCGGCTGAGAGAGCTCAGGGACCCAGG,C>T,P>L,missense,ETV6
rs879254717_0,19,+,11107488,AACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGC,G>A,W>*,stop-gained,LDLR
rs1057517803,15,-,89330113,GGTGGGGCACAATGTTTCCTTTGACCGAGCTCATATCAGGGAGCAGTACCT,C>T,R>*,stop-gained,POLG
rs876658575,16,+,68828302,TGAAGAAGGAGGCGGAGAAGAGGACCAGGTGGGTTTTGAAAACCTTGGTAG,C>T,Q>*,stop-gained,CDH1
rs1057519541,X,+,18628515,AGAAATTCGGATTCACCCCCTGAGCCAGGCCTCTGGCGGGAGCAGCAACAT,C>T,Q>*,stop-gained,CDKL5
rs727503979,12,-,49026710,GATGAATGTGGAGGTTGCCCTGCACCGAGGACTGCTAACCAAGTGCTCCCT,C>T,R>*,stop-gained,KMT2D
rs267606829,11,+,126275389,GCTCCAGGGGCTTCGGCGAAAGGTCCAGTCCTTGGGAGTCCTTTTCTGCCA,C>T,Q>*,stop-gained,FOXRED1
rs121918540,19,+,7646322,ACCTATCAGCTGTCCCGCTGGACCCCGGTCATCAAGGATGTAATGGAGGTA,C>T,P>L,missense,STXBP2
rs147321712_1,2,-,26466731,CAATGACCCCATCAATGTGCTGGTCCGAGTCTATGTGGTCCGGGTGAGACT,C>T,R>*,stop-gained,OTOF
rs786204009,1,-,11801392,GAAACAAACCCCCTACAGGTTTGACCGGATGGCAGCAGGTGGCCCCCTCTA,C>T,R>W,missense,MTHFR
rs794729286,2,-,178570882,CAGATATGAGTTCCGGGTTATAGCCCGAAATGCCGCAGGAGTGTTTAGTGA,C>T,R>*,stop-gained,TTN
rs80359058,13,+,32363342,CAATAAAACTAGTAGTGCAGATACCCAAAAAGTGGCCATTATTGAACTTAC,C>T,Q>*,stop-gained,BRCA2
rs369773321_0,7,+,143321720,TAATCTTTCAACGCTTTTAGGCTCTGGAATCCCCGAAATGAAGACAATACT,G>A,G>R,missense,CLCN1
rs281874727,X,+,108681837,TGCTGGTCCTCCAGGAATCCCTGGCCAGCCTGGGCTAAAGGGTCTACCAGG,C>T,Q>*,stop-gained,COL4A5
rs267607137,8,-,140360131,GCTCCATGAATTGGTCTACGCCTCCCGAAGGATGGGGAACCCTGCCCTCTC,C>T,R>*,stop-gained,TRAPPC9
rs786204492,8,-,86671046,TGTTATAAATGAGTATGCCGATGCCCAGCTACACAACCTGGTGAAAAGAAT,C>T,Q>*,stop-gained,CNGB3
rs793888512,12,-,49037395,GCTTTCCCTGGGTCTTGCAGGTGCCCGACAGCCAGGTTTGCCCCAGCCACT,C>T,R>*,stop-gained,KMT2D
rs397514337_1,3,+,15635538,GGGAGGAGAGCGTGGCTGACCATCACGAGGCTGAATATTATGTGGCTGCCG,C>T,H>H,synonymous-codon,BTD
rs267606959,15,-,89318986,GCTACGTCTGACATACCACGTACCCCGGTGCTGGGCTGCTGCATCAGCCGA,C>T,P>L,missense,POLG
rs104894325,12,-,8605439,CTCTTCCTCCGCTACATCTCGGACTGGGACCTAGACCCTGGCCGCTGCTAC,G>A,W>*,stop-gained,AICDA
rs1060501464,5,-,13735167,CCTAAAGATTGACATCCAGAGGAACCGAGTCAAGCATGAAGAGTTTCTCAC,C>T,R>*,stop-gained,DNAH5
rs104894008,7,-,44147732,CGTCAATACCGAGTGGGGCGCCTTCGGGGACTCCGGCGAGCTGGACGAGTT,G>A,G>R,missense,GCK
rs955142329,11,+,65188734,GCGGGGGAGCACCGCGGGGGGCTGCCGAAACTACCCAGGTGCACAGGGGCG,C>T,R>*,stop-gained,CAPN1
rs137853846,X,+,129569274,TTTCTTTACTTACAGTGGGAAATGCCGGGTTCCAGCCTGGTGTGACCGAAT,C>T,R>W,missense,OCRL
rs779869631_1,7,-,138762983,GGAAGGAGAGTTACAGGAAGCCAACCAGAACCAGCAGGCCTTGAAACAAAG,C>T,Q>*,stop-gained,ATP6V0A4
rs122460158,X,+,18628374,GCATTCTCATCCTTTCTTTCAGAGCCAGCCATTAAAATCACTGCGCAAGTT,C>T,Q>*,stop-gained,CDKL5
rs1057518899,16,-,2111647,CGGCTCCCCTGTCCTGACCCAGAGCCAGCCGGCTGCCAACCACACCTATGC,C>T,Q>*,stop-gained,PKD1
rs80358223,1,-,58576805,CCCCGAGGGCCGCTTCAAGGCGCGCCAGTGCAACCAGACGTCGGTGTGCTG,C>T,Q>*,stop-gained,TACSTD2
rs371524413,17,-,7675145,GATTCCACACCCCCGCCCGGCACCCGCGTCCGCGCCATGGCCATCTACAAG,G>A,R>H,missense,TP53
rs587777244,15,-,65023762,TTGAATGTTCATCCCAGTTGCCTCCCGAGATGGCGTGGCCCAGCCCCTGTA,C>T,P>L,missense,MTFMT
rs104894801,X,+,68838649,AGTGGGAAGGGCTTGGTGATCTATCCGAAAATTGGAGACAAGCTGGACATC,C>T,P>L,missense,EFNB1
rs137853862,X,+,152858872,GCTCTTTTATAGAGTGAATTACATTGGCACCAAGAATGTCATTGAAACTTG,G>A,G>S,missense,NSDHL
rs753237278,4,+,6301479,CCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCT,G>A,G>S,missense,WFS1
rs876659533,17,-,61776445,GGGAGCACTTTTGTTATCTGTGTGCCAGACTGTGAGCCAAGGAATTTTGTG,C>T,Q>*,stop-gained,BRIP1
rs200697179,16,+,56885363,GGTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCAC,C>T,R>C,missense,SLC12A3
rs1131691735,18,-,55228850,CATCCTCAGTCTGGAGCAGCAAGTCCGAGGTCAGTGCAGGCCAGCCTCCTT,C>T,R>*,stop-gained,TCF4
rs746754428,6,-,33168735,GGGCCAGGATGGTGCTAAGGGTGACCGAGGCGAGGATGGTGAGCCAGGACA,C>T,R>*,stop-gained,COL11A2
rs786203443,17,+,31358604,CCATGAAGAATCCCCACCACAATACCAAACATCTTACCTGCAAAGTAAATA,C>T,Q>*,stop-gained,NF1
rs750095738_1,18,-,23536689,CATGGGCATTAACGGCAGTGCCTACCGAGTATTTCCTTACAGGTAAAGCCT,C>T,R>*,stop-gained,NPC1
rs754867753,17,+,80050085,CCAGGTTGTGGCTACCAAGCAGAGCCGAGCCCAGCGGCAGGAGCTGGGGGT,C>T,R>*,stop-gained,CCDC40
rs397516685,10,-,88939680,TTGACAGCTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTAT,G>A,R>Q,missense,ACTA2
rs786204517,17,+,80108569,CTACTCCTCCACCGCTATCACCCGCCAGGTGGTGGAGAACATGACCAGGGC,C>T,Q>*,stop-gained,GAA
rs147901432,16,+,56885364,GTGGAAGACCACATCAAGAACTACCGGTGAGCAGAGCTGCTGGGACCCACC,G>A,R>H,missense,SLC12A3
rs80356682,1,-,209625721,TGCAAAGAGTAAGATTGAGCAGATCCGAGCAGTTCTCAGCAGCCCCGCAGT,C>T,R>*,stop-gained,LAMB3
rs587781239,15,-,25339216,ACTTGCTTTAATGTGCTTTTACTTCCGGAATACTCAAGCAAAGAAAAACTT,C>T,P>L,missense,UBE3A
rs745448288,4,+,122742532,GGTTGAAGCAGATAACAACACATCACGAACTCTGAAAAACAGCCTGCTTGC,C>T,R>*,stop-gained,BBS12
rs1064792860,22,-,50529225,GCTGGAGTGGCCAGAGGCCTGGCGCCAGCAGCTTGTGGACAAGCATTCCAC,C>T,Q>*,stop-gained,TYMP
rs1283070426,5,-,13753247,GATCTGGATTAAAAATAAAGAAAGCCGAAATGAACTCCAGGTAATTTGTGT,C>T,R>*,stop-gained,DNAH5
rs398124058,X,-,31658123,ATAGCAGTTGGCCAAAGACCTCCGCCAGTGGCAGACAAATGTAGATGTGGC,C>T,Q>*,stop-gained,DMD
rs121908719,20,-,44624279,GTGTAAGAAGTACCAGCAGCAGACCGTGGTAGCCATTGACCTGGCTGGAGA,G>A,V>M,missense,ADA
rs1085307639,X,-,20161709,TGATACACCAGAGGAAATATTGGCACGAATAGGTAGCGGAAAATTCTCACT,C>T,R>*,stop-gained,RPS6KA3
rs121909513_1,17,-,4902311,CACCCCTTAGGATTGGCAGGATTACCGACTCAACTACAGCAAGGACGACTT,C>T,R>*,stop-gained,CHRNE
rs137854576,5,+,112775676,GACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTC,G>A,W>*,stop-gained,APC
rs121917875_2,6,-,18121814,GTTGCAAGCTCATCTGTGCAATCCCCGAGGGGTGGCAGTGTCTTGGCTCAC,C>T,R>*,stop-gained,NHLRC1
rs762909359,5,+,170047513,AAACCTTGTTTTCTTCCTTTAGATCCAGCAGGCAAAATTCTATGAAAGCAT,C>T,Q>*,stop-gained,DOCK2
rs80356777,11,-,68784909,CCATGATGGGCGGCTGCTGAAGCCCCGGGAGATGGAGCAGCAGATGCAGAG,C>T,R>W,missense,CPT1A
rs104893919,5,+,149978184,CCTTATGATTGGTGAGACAGTTGACCGAGAACTACAGAAAGCTGGCTATGA,C>T,R>*,stop-gained,SLC26A2
rs387906946,12,-,7690153,CCGTCACCAGCTATTCATTAACTTCCGGGACCTGGGTTGGCACAAGTGGAT,C>T,R>W,missense,GDF3
rs779315456,19,+,12896994,TTCGGAGTTCTGCTTGCACACAGCCCGGCAGTACGCCCTCGACAGGTGTGT,C>T,R>W,missense,GCDH
rs386834001_1,17,-,59049297,CCAAAATGATGATGCTCTGGAGACACGAGCTAAGAAGTCTGCATGCTCTGA,C>T,R>*,stop-gained,TRIM37
rs1131691647,1,+,201324946,CCAACTCGTTCCTCTCCCAGGGAACCAGGTGTTCCCGGAGGTGACCAGGCT,C>T,Q>*,stop-gained,PKP1
rs140511594,2,-,165941111,GTGAACCAGATAATCGTGAATTTTCCGAGCTTCCTTCCTGCTTTTGTTAAG,C>T,P>L,missense,TTC21B
rs587779212,2,+,47799466,TGAGACTCCAGAAATGATGGAGGCACGATGTAGAAAGATGGCACATATATC,C>T,R>*,stop-gained,MSH6
rs864622269,14,+,50628394,CACCCTGTGCACTTGGGCATATATCCGGTACTCTGGAGAATACCGAGAGCT,C>T,R>W,missense,ATL1
rs370129081,11,+,6394516,ACTCTTTGTGCCCAGCTCTCTGCCCGTGCTGACAGCCCTGCTCTGTGCCGC,G>A,R>H,missense,SMPD1
rs898275076,8,+,133022135,TGCCAGCTACCGAGTGGGTGTCTTCGGCTTCCTGAGTTCTGGTGAGTTGCT,G>A,G>S,missense,TG
rs121918731_1,14,-,24259769,GGATGCCTGCTTATACATCCTGGACCGGCGGGGGATGCCATATGGAGGCCG,C>T,R>W,missense,TGM1
rs886044730,1,-,94062623,CCAGGTGCAGGCGGAGGCTCCAGTTGGAATCTACCTCCAGCAGATGCCCTA,G>A,G>R,missense,ABCA4
rs372872777,9,-,36246262,CACATCTGCTGCCTTGATGAACATCCGAATCCTTCACATTGAAGGTGGGGA,C>T,R>*,stop-gained,GNE
rs779040832,15,+,80180188,TCTGTCAACGGCTGCAACCTGCGGCCGGGGGACCTCCTGGCTTCTGGGACC,C>T,P>L,missense,FAH
rs375801610_1,18,-,50262168,AGCTGAGCACCATCTAGAAAGAATCCGACGCAGCCATCAGAAGCATAATGC,C>T,R>*,stop-gained,CFAP53
rs1064794295,9,+,34649076,ACGTCCTTTCCCTACTCCATGGGCTGGCATGGTGAGGCTTTTCAAGTACCT,G>A,W>*,stop-gained,GALT
rs765468034,17,+,18142826,CCTGGTACACGCATACGTGAGCCGCCGACGCTATCTCAAGGTATAGGCCCT,C>T,R>*,stop-gained,MYO15A
rs34336420,2,+,10047996,GAAACTTTGCAGGACACACACCTCACGGACAGTTTACTCAGCACTAACTTG,C>T,T>M,missense,KLF11
rs1085307317,2,+,202532697,ATGTATGCTCTTGGACTAATCTATTGGGAGATATTTATGAGATGTACAGAC,G>A,W>*,stop-gained,BMPR2
rs397516006,11,-,47333291,CAGGATCTCCGGGTGACTGACGCCTGGGGTCTTAATGTGGCTCTGGAGTGG,G>A,W>*,stop-gained,MYBPC3
rs139889944,11,+,77199771,GTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCC,G>A,R>Q,missense,MYO7A
rs72651642,17,-,50191826,AGGTCCCCCTGGTCCTGCTGGTCCCCGAGGGGCCAACGGTGCTCCCGGCAA,C>T,R>*,stop-gained,COL1A1
rs551472773_2,22,-,50626196,GGGAACGACCTACGAGGGCGGTGTCCGAGAGCCTGCCTTGGCCTTCTGGCC,C>T,R>*,stop-gained,ARSA
rs747724352,9,-,96251474,CTTCTTTCTGCCAGTCAACAATGTCGGAATGCTTCCAAACCTTCTCCCAAG,G>A,G>R,missense,HSD17B3
rs104895073,11,+,67490059,GCAGGTGGAGAGCCCTGGCACGTACCAGCAGGACCCATGGGCCATGACAGA,C>T,Q>*,stop-gained,AIP
rs193922716,17,-,42333719,GCCCTGCATGCCCATGCATCCTGACCGGCCCCTCGTCATCAAGACCGGCGT,C>T,R>W,missense,STAT3
rs768134055,3,-,123708719,GAACAGCGCTGGAGAGGTCCGCACCCAGGCCGTGCTCACGGTACAAGGTGA,C>T,Q>*,stop-gained,MYLK
rs28934906,X,-,154031355,CTGGACCCTAATGATTTTGACTTCACGGTAACTGGGAGAGGGAGCCCCTCC,C>T,T>M,missense,MECP2
rs886039822_1,18,-,10736621,AAAGAAGGAAGATGAAGAACCTCCACGAAGGTCAGCATTCCAGGTAATTAT,C>T,R>*,stop-gained,PIEZO2
rs764985774,2,-,178600932,AGTAGAGGGTGGGGAATATGAATTCCGAGTCAAAGCTGTCAATGCTGCAGG,C>T,R>*,stop-gained,TTN
rs886038205,17,-,19343795,AAGGTGGTGGCTCAGGGTGAAGGCCGGGAAGGTAAAGCTCCCTCCCCTCTC,G>A,G>R,missense,B9D1
rs386833423,4,-,177439624,AATTAAAAATGCTATTGGTGTGGCACGGAAAGTACTGGAACATACAACACA,C>T,R>W,missense,AGA
rs17857094,X,+,18625245,CGAGAAGATCTCAGATCTGCAGACCCAAGTGAGTGGATCCTGCACCACTGC,C>T,Q>*,stop-gained,CDKL5
rs549138385_1,17,+,18135747,GGAGGTGGCCTCAGTGGTGAGTGCCCGAGAGATCCAGGCCGTGGCAGAGCT,C>T,R>*,stop-gained,MYO15A
rs121434250,2,-,31529419,GTATGTTTCTGGAGCCAATTTCCTCGGTGAGATCATTGAATGGATCGGCTA,G>A,G>S,missense,SRD5A2
rs727504455,10,+,71646537,CACTCTCATCAATGAAAATGACAACCGGCCCATCTTCAGCCAGCCACTGTA,C>T,R>W,missense,CDH23
rs74517001,2,+,209829280,ATACAAGCTAGATAAGATGCAGTTCCGACAAACCATGAGGGACTATGTGAA,C>T,R>*,stop-gained,UNC80
rs119470017,5,+,150388004,GGCTGCAAGCACCCCGAGGAAGGCCCGAGCCTCGGAGAGCACAGCCAGGAG,C>T,R>*,stop-gained,TCOF1
rs762976316,10,-,49458898,ATCTGCATCACAGTCTTGTGTCTTCCGAGAACTATTGAGAAATCTGTGCAC,C>T,R>*,stop-gained,ERCC6
rs373856119,8,+,38252216,TCCCATTGGAATGTTCCTTACTGTCCGAGGACTAAAAAGAATTGATCCCAA,C>T,R>*,stop-gained,DDHD2
rs483352841,19,-,12884973,CTGACCCGCCACTACCGGAAACACACGGGGCAGCGCCCCTTCCGCTGCCAG,C>T,T>M,missense,KLF1
rs104886263,X,+,108668477,TCTGGAAGGACCTAAAGGCAACCCTGGGCCCCAAGGTCCTCCTGGGAGACC,G>A,G>R,missense,COL4A5
rs121917886,3,-,151338053,AATTCCTTACACCCTGAGCCAAACCCGGGATGTCTTTGACTGCACTGCTGA,C>T,R>W,missense,P2RY12
rs756032160,5,-,13735239,CTACGAGGTTTATAAGTATGCTGCCCGAGGGCTGTACGAGGAGCACAAATT,C>T,R>*,stop-gained,DNAH5
rs104894378,12,-,114385521,AATAATCCCTTTGCCAAAGGATTTCGGGGCAGTGATGACATGGAGCTGCAC,G>A,R>Q,missense,TBX5
rs193922818,19,+,38500899,GCGTCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAACCAGGAC,G>A,R>H,missense,RYR1
rs150146721,18,-,57554336,GGGAGGAAGAATATCCTCTTGGTTCCGATAGCATTTACCAGTGACCATATT,C>T,P>L,missense,FECH
rs118203968,17,+,44075760,AGCCGGCCCTTTGCCTCCCTGAGCCGTGACTCAGGGGCTGCCCTGGGCCTG,G>A,R>H,missense,G6PC3
rs886039664,22,-,37983360,CTCAGCAAGACGCTGGGCAAGCTCTGGAGGTGAGCACCCGACCGCCCCCCG,G>A,W>*,stop-gained,SOX10
rs1085307316,2,+,202532684,GAAACAAGTAGACATGTATGCTCTTGGACTAATCTATTGGGAGATATTTAT,G>A,G>R,missense,BMPR2
rs786204433,11,+,108304822,TCTTCGACACTTCTCGCAAACGAGCCGATCCACAACCCCTGCAAACTTGGA,C>T,R>*,stop-gained,ATM
rs34946978,2,+,233768226,TCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCAT,C>T,P>L,missense,UGT1A1
rs926741242,2,-,178609289,TCAGCTACGCGTCCGAGATTCTCTCCGACCTGACCATGGTCTGTATATGAT,C>T,R>*,stop-gained,TTN
rs104895360,12,+,109596548,CCACTCAGCCACCTCCCTGGACAGCCGAGTCCAGCAAGCCCTGGATGGCCT,C>T,R>*,stop-gained,MVK
rs118192122,19,+,38500643,GGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTTGTGCCC,G>A,R>H,missense,RYR1
rs200920510,4,+,158706761,GGTACTAATCATGAACATGACCAGCCGGCACACTTAACCTTAAGGGATGAC,C>T,P>L,missense,ETFDH
rs397508333,7,+,117592203,TTAGAAGGAGATGCTCCTGTCTCCTGGACAGAAACAAAAAAACAATCTTTT,G>A,W>*,stop-gained,CFTR
rs202166344_1,1,-,241519716,CCCAAGCTCCCTCAGCACCATGTACCGAGCACTTCGGCTCCTCGCGCGCTC,C>T,R>*,stop-gained,FH
rs121908548,17,-,63941517,CTATATCATCATCTCCTTCCTCATCGTGGTCAACATGTACATCGCCATCAT,G>A,V>M,missense,SCN4A
rs121908373,19,+,7526505,CCGGGAAGAGAACACCATCGCCTTCCGACACCTCTTCCTGCTGGGCTACTC,C>T,R>*,stop-gained,MCOLN1
rs886041715,16,+,56192353,CAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCA,G>A,G>R,missense,GNAO1
rs863224957,15,+,42401751,CCTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGC,C>T,R>W,missense,CAPN3
rs761505217,3,-,38551460,AATAGGCCGCATCCTCAGACTGATCCGAGGGGCCAAGGGGATCCGCACGCT,C>T,R>*,stop-gained,SCN5A
rs794726693,5,-,177994174,GCTGGAGTCAGCCTTTGGGAGGAACCAGTACCCCGACATCTGGGCCCGAGA,C>T,Q>*,stop-gained,PROP1
rs776327443,3,-,33014144,CACAACTCATCCAACTACACGCTCCCGGCCTTTTATATGGGGAACTTCTCC,C>T,P>L,missense,GLB1
rs587783892,5,+,36985065,AGCAGAATCTAAACCAAATGAAAACCGATTGGTGGAGACAAAATCAAGTGA,C>T,R>*,stop-gained,NIPBL
rs267607070,19,+,11033308,CCCCCAGGACCTGCAAGCGCAGGACCGAGCCCACCGCATCGGGCAGCAGAA,C>T,R>*,stop-gained,SMARCA4
rs121912942,21,+,46126535,GATCGTGTGCCCAGACCTTCCCTGCCAAACAGGTAATGCAGGGCACCCTGA,C>T,Q>*,stop-gained,COL6A2
rs200321110,7,+,117611646,AGGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAACTCT,G>A,G>R,missense,CFTR
rs397514716,13,-,36865660,TGGGGAGACATTCCAGGCTTCCTCCCGAAGTGTGCTCATAGATGGGTTCAC,C>T,R>*,stop-gained,SMAD9
rs863223718,5,+,87376512,ACCAGGGTCCCTGCGTGTTCGAGCACGATACTCTATGGAAAAAATCATGCC,C>T,R>*,stop-gained,RASA1
rs201135624,9,-,6558671,TCTATTCTGTAGGTTTGCCTCATTCCGAAATCAGCACATGGGACCAACCCA,C>T,P>L,missense,GLDC
rs397515429,10,+,71362337,GCGCTCCCAGGGTTCGTGCTCCTCCGGACCTGCCTCATCCCCCTCTTCGTG,G>A,R>Q,missense,SLC29A3
rs1131691743,X,+,153726027,ATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCCTTCTCG,C>T,T>M,missense,ABCD1
rs565675340_0,2,-,178528797,AGAGCTTACCAACTCTGAGGAGTACCGATATGGTGTCTCAGGCAGCGATCA,C>T,R>*,stop-gained,TTN
rs786205700,20,+,63687740,ATCCTTACCAGCGGCACGCTGGCCCCGGTGTCCTCCTTTGCTCTGGAGATG,C>T,P>L,missense,RTEL1
rs762991211,14,-,24082758,GGTAAAGCGGGAACCCTCTGAGGGCCGACCTGGCCCCCCTACAGCCTCACT,C>T,R>*,stop-gained,NRL
rs780722371,2,+,202552825,AGGATGGCTGAACTTATGATGATTTGGGAAAGAAACAAATCTGTGAGCCCA,G>A,W>*,stop-gained,BMPR2
rs587783711,12,-,49050467,GGTTCCCCAAAACTCCCCTCCTTCCCAGTGCTCTCCTCCTGCCCTACCACT,C>T,Q>*,stop-gained,KMT2D
rs121913446,7,+,55174735,TCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCC,C>T,P>L,missense,EGFR
rs80338680_1,19,-,12649932,ACGCTTCTACACAGACAGCAATGGCCGGGAGATCCTGGAGAGGAGGTGGGG,C>T,R>W,missense,MAN2B1
rs387906896,1,+,160349583,GGAGAAGCTGAAAGGGAGAACCAGCCGAATTGCTGGTCTTGCAGTGTCCTT,C>T,R>*,stop-gained,NCSTN
rs267606760,9,+,133636672,TGGCGAGCTTGAGAACGCAGATCTCGTGGTGCTCTGGACCGATGGGGACAC,G>A,V>M,missense,DBH
rs387906992,7,+,34055301,ATGCAAATTTGGCAACAAGATTTTCCAGGTATGTCATGAGACAAGCACATG,C>T,Q>*,stop-gained,BMPER
rs387906637,16,-,9938314,CTTTGAGGATGCAAAGACACAAGTCCAGCTGAAGAAGATCCACTCTTCTGT,C>T,Q>*,stop-gained,GRIN2A
rs138775799,1,-,45333472,AGACGTAGCTGAAGTCACAGCCTTCCGAGGGAGCCTGCTAAGCTGGTACGA,C>T,R>*,stop-gained,MUTYH
rs200287925,8,-,89982766,GATTGAAAATGATCAGTCGATCAGCCGAAATCATGCTGTGTTAACTGCTAA,C>T,R>*,stop-gained,NBN
rs150576702,5,+,34937404,TGCATGGAAGGAAGAATATGATACACGACAGGCTTCAAACCGCTGGGAAAA,C>T,R>*,stop-gained,DNAJC21
rs121917745,1,-,68429835,TGCCAAGGACTTAAGTGAAGTTGCCCGGGCTGAAGTGGAGATTAACATCCC,C>T,R>W,missense,RPE65
rs587784098,5,+,177211613,TCTTGATGCTGTACTGCAGGGAGACCGAGAACGTGGAGGTTCATTGAGAGG,C>T,R>*,stop-gained,NSD1
rs387906875,10,+,119670037,TCCCCAGCCTGGGATGCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCC,C>T,R>*,stop-gained,BAG3
rs104894191,11,-,44309645,GCCCCCGGACGGCAGCCTCAAACTCCAGGAAGGCAGCAGCGGCCACAGCGC,C>T,Q>*,stop-gained,ALX4
rs587777192,3,-,196239597,CATTCAGAAGTGGGAGGAGAAGTCCCGAGAATTCATTGGAAGTTTTCTGGA,C>T,R>*,stop-gained,PCYT1A
rs63751600,2,+,47463154,ATTAATAAGTGCAGCCAGAGATCTTGGTAAGAATGGGTCATTGGAGGTTGG,G>A,G>S,missense,MSH2
rs1303653650,1,-,16996059,TGTGTGCACGCTCTACGCCCAGAGCCGACTGCGGAGACAGGGCATTTTCTG,C>T,R>*,stop-gained,ATP13A2
rs371886102,5,-,78964535,ATTAATTGACGCTCTGAATGTCACACGATGTGCTCTTGATTTTCGAGATGG,C>T,R>*,stop-gained,ARSB
rs121918388_1,2,-,21010033,GAGACACATACAGAATATAGACATCCAGCACCTAGCTGGAAAGTTAAAACA,C>T,Q>*,stop-gained,APOB
rs1057521068,6,+,45432008,TTCAACGATCTGAGATTTGTGGGCCGGAGTGGACGAGGTAGGTCTCTGACT,G>A,R>Q,missense,RUNX2
rs750219200,17,-,35101301,CTCAAACCTGCCCTCGGACGCTCCTGGAGCTTTGTGCCCAGCACTCGGATT,G>A,W>*,stop-gained,RAD51D
rs121965051,10,-,124403847,CAGGGTGAAGCAGGCGTTGTTGTTCCGGATCCAGGTTACCTAATGGGAGTG,C>T,P>L,missense,OAT
rs934897228,16,-,88736671,CAGCCTGGGCCACCTCATCATGGACCAGAGCTATGTGTGCGCGCTCATTGC,C>T,Q>*,stop-gained,PIEZO1
rs386833524,9,-,6592870,GCCGCTCAGCGGCAGATCAATTTTCGGCTTTTTGAGGATGGCACAGTAAGT,G>A,R>Q,missense,GLDC
rs121434369,19,+,12897824,GATTTCTGACGAGTATCACGTGATCCGGCACGCCATGAACCTGGAGGCCGT,C>T,R>W,missense,GCDH
rs754667801,2,-,219216027,GGGGAGGTGCTGCGGATCGCGGATCGGGGCACATCCAGTGTCACAGGGCTG,G>A,R>Q,missense,ABCB6
rs587779504,2,+,189008960,CCACCCAGGGCAACCAGGCCCTCCTGGACCTCCTGGTGCCCCTGGTCCTTG,G>A,G>R,missense,COL3A1
rs863224993,X,-,32463444,TAACACTCAGTGGGATCACATGTGCCAACAGGTATAGACAATCTCTTTCAC,C>T,Q>*,stop-gained,DMD
rs28934574,17,-,7673776,TGTTTGTGCCTGTCCTGGGAGAGACCGGCGCACAGAGGAAGAGAATCTCCG,C>T,R>W,missense,TP53
rs1057524670,11,+,17772388,GGGCGTGCTCACCATCGCCATGCCCGTGCCCGTCATCGTGAACAATTTCGG,G>A,V>M,missense,KCNC1
rs5030820,3,+,10149822,GAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTA,C>T,R>W,missense,VHL
rs1131691149,11,+,108365110,CTTCTATATGATCCACTCTTTGACTGGACCATGAATCCTTTGAAAGCTTTG,G>A,W>*,stop-gained,ATM
rs1466435969,11,-,72329751,GGGACACACACCCTTGGATTATGCCCGAGAAGGGGAAGTGATGAAGCTTCT,C>T,R>*,stop-gained,CLPB
rs121908841,3,+,189868615,CTGGGCCGACGCTGCTTTGAGGCCCGGATCTGTGCTTGCCCAGGAAGAGAC,G>A,R>Q,missense,TP63
rs199422242,X,+,154764911,TTTGTTTTTTTAGTAATTATTTTGCCAAAGAAACATAAGAAGAAAAAGGAG,C>T,P>L,missense,DKC1
rs1450676893,7,-,2545008,CTTTGGGGAGCCAGGACCCCTCGGCCGAGCAACCTGGGCCGTCCCCACCGT,C>T,R>*,stop-gained,BRAT1
rs1057518674,1,-,153818075,TAAGCTTCCCTCTCGGCCTGGGGCCCAAGGGGTTGAACCTCAAAATTTGAG,C>T,Q>*,stop-gained,GATAD2B
rs727504550,2,-,178539537,AGACGAGAAGTGCCTAAAGCCGCCTGGTATACCATTGATTCCAGAGTCCGA,G>A,W>*,stop-gained,TTN
rs878853170,18,-,31079850,TAATATTACAGTCCTTGCATCAGACCAAGGTAAGAATTTGTCTTTAAGCCA,C>T,Q>*,stop-gained,DSC2
rs886039409,X,-,153867401,TACTGCCATAAACAAATATGGCCCCGGGGAGCCCAGCCCGGTCTCTGAGAC,G>A,G>R,missense,L1CAM
rs387907127,16,+,29813541,AGCCCTTCAACCAGAGCTCCCTACCCAGGAGGACCCCACCCCTGAGATTCT,C>T,Q>*,stop-gained,PRRT2
rs387907139_1,12,-,94994249,TTCATCTTCCCACCCAGGCCGTCACCGATGGGTTGTATATACTACTGAAAT,C>T,R>*,stop-gained,NDUFA12
rs368497893,22,-,38132831,ACACCCCGCTGCACCTGGCCATGTCGGTGAGCCCAGGACCGCGTGTCCTGC,G>A,S>S,synonymous-codon,PLA2G6
rs63749856,16,-,16155010,GCAGGTGGGCATCGTTGGCAGGACCGGGGCAGGGAAGTCCTCCCTGGCCAG,G>A,G>R,missense,ABCC6
rs690016556,5,-,150055262,GGTGAAGGATGGATACCAAATGGCCCAGCCTGCATTTGCCCCAAAGAATAT,C>T,Q>*,stop-gained,CSF1R
rs886039274,22,+,31906291,GCGGAACTCCACCAGCTCCACCAACCAGAACATGTTCTGCGAGGAGCGGGT,C>T,Q>*,stop-gained,DEPDC5
rs1057516746,9,-,36234046,TGCAGTTAAACACGTCCCATTTGACCAGTTTATACAGTTGGTTGCCCATGC,C>T,Q>*,stop-gained,GNE
rs571038432,4,+,145655165,TCGATAGGTAATTCGTATTTCTGCCCGAAGTGGAGAGGGGATCTCTGAAAT,C>T,R>*,stop-gained,MMAA
rs121909091,19,+,10798543,AGAGCGAATCGTCACCACTTACATCCGGGAACGGGAGGGGAGAACGAAGGA,C>T,R>W,missense,DNM2
rs137852241,X,+,139551218,ACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAA,G>A,R>Q,missense,F9
rs886043155_1,10,+,76036132,GCATACCTTAACCCTCAACAAGAACCGAATATCCTTTCCTCTGCCCGCTGC,C>T,R>*,stop-gained,LRMDA
rs794728721,1,+,237445489,GAATCACGCACAGCCCGAGTTATCCGGAGCACAGTCTTCCTTTTCAATAGA,G>A,R>Q,missense,RYR2
rs777202372_1,11,-,72358997,TGCTGTCTCCCCAGTCCTGATCACCCGAGAGGATGACTTCAACAACAGGCT,C>T,R>*,stop-gained,CLPB
rs397508701,7,+,117665553,CAGGATAGAAGCAATGCTGGAATGCCAACAATTTTTGGTGAGTCTTTATAA,C>T,Q>*,stop-gained,CFTR
rs397515621,15,-,55439557,GTGGCTACACAAACAAGCTGAGGCACGAAGAGCAATGAATACTGACATAGC,C>T,R>*,stop-gained,DNAAF4
rs137852770,2,-,26204150,AGGGCTGATGGGAGCAGGCATCGCCCAAGTCTCCGTGGATAAGGGGCTAAA,C>T,Q>*,stop-gained,HADHA
rs199473153,3,-,38597737,TGAATTCGAGGAGATGCTGCAGGTCGGAAACCTGGTAAGGGCTGCCTGCAG,G>A,G>R,missense,SCN5A
rs28936675,7,-,155812032,GGCGTGCGGACCGGGCAGGGGGTTCGGGAAGAGGAGGCACCCCAAAAAGCT,G>A,G>R,missense,SHH
rs1057518800,12,-,13567228,AGAACTGGAAGCTCTCTGGCTCACTGGCATTTGTCACAATGAGAAGAATGA,G>A,G>S,missense,GRIN2B
rs112550005,15,-,48425829,ATGCAAGGTTATTCACGATGTTTGCCGAAATGGGGAATGTGTCAATGACAG,C>T,R>*,stop-gained,FBN1
rs750325978,2,-,25240727,CACGTTGCCTTTATCCTCCCAGATCCAGGAGTGGGGCCCATTCGATCTGGT,C>T,Q>*,stop-gained,DNMT3A
rs1448259297,13,+,40793248,AAACATGAAATCCAATCCTGCTATCCAGGCTGCCATTGACCTCACAGCGGG,C>T,Q>*,stop-gained,SLC25A15
rs866430018,8,-,142876741,TTCATGCCCAGGAGCCTGTCTCGCTGGACCAGCCCCAAGGTGTGGAAGGAG,G>A,W>*,stop-gained,CYP11B1
rs104893901,5,-,173233036,GTACCTGTCGGCCCCCGAACGCGACCAGCTGGCCAGCGTGCTGAAACTCAC,C>T,Q>*,stop-gained,NKX2-5
rs886039312,7,-,2538710,CTCCGTAGACTCGGAGGGCTTCCCACGGCGGGCGGTCATGCAAGTCTTCAC,C>T,R>W,missense,BRAT1
rs17852079,20,+,4699899,CGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTT,C>T,Q>*,stop-gained,PRNP
rs80338882,7,-,100630973,CCCTTATCACCTGGGCCCCGGGCCACGACTGCGGCTAGTGGTCAACAATCA,C>T,R>*,stop-gained,TFR2
rs369532274,17,+,80118223,TGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGC,C>T,Q>*,stop-gained,GAA
rs781281145,8,-,38148277,CAGTGACCAGGAGCTGGCCTATCTCCAGCAGGGGGAGGAGGCCATGCAGAA,C>T,Q>*,stop-gained,STAR
rs397516740,X,-,120455461,GTGCAGTTCGGACCTGGCTTTTCCTGGATTGCGAATTTTACCAAGGCAGCA,G>A,W>*,stop-gained,LAMP2
rs137852214,X,-,129823724,ATACTGTTACACATGCAAGATCTTCCGGCCTCCCCGGGCCTCCCATTGCAG,C>T,R>W,missense,ZDHHC9
rs121918214,16,+,53873837,TGTGTTTTGGCCGGTTCACAACCTCGGTTTAGTTCCACCCACCGAGTGGCA,G>A,R>Q,missense,FTO
rs121909019,7,+,117611638,AGCTTAAAAGGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTT,G>A,R>H,missense,CFTR
rs794727215,3,-,70972583,ATGGACAGTGGATGAAGTAGAATTCCAAAAACGAAGGCCACAAAAGATCAG,C>T,Q>*,stop-gained,FOXP1
rs1429859627,8,-,24953770,GAAACTCTTGGAAGGCGAGGAGACCCGACTCAGTTTCACCAGCGTGGGAAG,C>T,R>*,stop-gained,NEFL
rs397508097,11,+,2768917,GTACTTTGTGGCCAAGAAGAAATTCCAGGTAAGCCCTGTGCTGAGCCTTCC,C>T,Q>*,stop-gained,KCNQ1
rs397515443,8,+,74364111,AGAAACTGGGGAAACGGAAAGCGACCAAACTTGGAAACCTATTACGAGCGT,C>T,P>L,missense,GDAP1
rs121434259,22,+,29636805,TTTGGTGTGCCGGACTCTGGGGCTCCGAGAAACCTGGTTCTTTGGACTGCA,C>T,R>*,stop-gained,NF2
rs750518671,19,+,11128085,GGCTCTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCCCAGCG,G>A,V>M,missense,LDLR
rs200399246,11,-,47338658,CCAGCTGCTGTGTGAGACCGAGGGCCGGGTCCGCGTGGAGACCACCAAGGA,C>T,R>W,missense,MYBPC3
rs863223433,21,-,43059226,GAGGACCTCACGGAGAAGAAGCCCTGGTAAGACCGCTCGGCCGGAGACCCG,G>A,W>*,stop-gained,CBS
rs751203469,17,+,42543817,GGCGTCCTGGCCTATGAGCTGCTGCCGGCACTGGACGAGGTGCTGGCTAGT,C>T,P>L,missense,NAGLU
rs1350329646_1,11,+,103192150,GTTAGAAATTGTAGCATATGAGGCACGGCGCTTATTTCGTGACAAAATTGT,C>T,R>W,missense,DYNC2H1
rs140000324,14,-,24262193,TCGCTGCTGTGGCTGCTGTTCATGCCGAAATGCGGCAGATGACGACTGGGG,C>T,R>*,stop-gained,TGM1
rs1800582,4,-,144119686,TGTTTACCCTCCAGAAGAGGAAACCGGTATGTTCTTAGTTTTAAATAGTTG,G>A,E>K,missense,GYPA
rs371678190_1,2,-,178578066,AACTGAAGGTCTTGAATATGAATTCCGAGTTATGGCAATCAATTTAGCAGG,C>T,R>*,stop-gained,TTN
rs104893991,6,+,45438040,ATTAAAGTTACAGTAGATGGACCTCGGGAACCCAGAAGTAAGTACTCCCCT,G>A,R>Q,missense,RUNX2
rs267607028,19,+,35033827,TGGCAGGCAGTGGACAGGACAGGCTGGCTCTGTGCCTGGCCAGCCAACCGC,G>A,W>*,stop-gained,SCN1B
rs62637037,X,+,41474502,TGCCGTCTGGAGTGGCTGAGGGACTGGATGGAGGGCTCCGGACGTGTCACC,G>A,W>*,stop-gained,NYX
rs66656800,X,+,38381429,AATGAAAGTCTCACGGACACGGCCCGGTTTGTAAATATTTTCTTCTCTCCA,G>A,R>H,missense,OTC
rs45507199,16,+,2088294,ATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGC,G>A,R>Q,missense,TSC2
rs794728811,1,+,237832619,TTTTTCCCAGCAGGGGATTGCTTCCGGAAACAGTATGAAGACCAGCTAAAT,G>A,R>Q,missense,RYR2
rs1461973241,22,+,30615718,CTTCCAGAATGCTCTCATGATTTCCCAGCTGCTGCCCGTTCTGAACCACAA,C>T,Q>*,stop-gained,TCN2
rs397514670,6,+,33440737,CCGACCCTTCCCCCCAGCGTGTTCCCGAGGGAGCTGAAGGAGGTGTTTGCT,C>T,P>L,missense,SYNGAP1
rs122453113,X,+,153694577,CGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTG,C>T,R>*,stop-gained,SLC6A8
rs281874682_0,X,+,108598805,ATGGGTCCCCCTGGTTTCGGCCCTCCAGGCCCAGTAGGTGAAAAAGGCATA,C>T,P>L,missense,COL4A5
rs121918349_1,12,-,48966271,TATGGGCTCCCCAGGGACAAGGGGCCGGGCCTGCAACAAGACCAGCCGCCT,C>T,R>W,missense,WNT10B
rs387907145,16,-,4800548,GAACCTGAAGATGCCCCGGAACAACCAGCTGCTGCACTTCGCCTTCCGGGA,C>T,Q>*,stop-gained,ROGDI
rs121912462_1,17,+,75736053,CCCTTCCTTGTCCCTCTCTGCAGACCGAGGACGCTGCTCCATGGGCCAGTG,C>T,R>*,stop-gained,ITGB4
rs137853239,12,+,120999606,CATCCAGCACCTGCAGCCGGCCCACCGGCTCAGCGCCAGCCCCACAGGTGA,C>T,R>W,missense,HNF1A
rs764247545_1,19,+,41422634,CCTTCTCTGTGTCCCCACAGCAGCACGAGGCCCCGGGTATGGCATCATGTC,C>T,R>*,stop-gained,BCKDHA
rs886041995,8,-,143818398,CCCATCAAGAGCATCGACATGTCCTGGGACTCCGTCACCATGAAGCACAAG,G>A,W>*,stop-gained,PUF60
rs587779695,2,+,188999479,TCTCACTTATTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGC,G>A,G>S,missense,COL3A1
rs778068209,17,+,80110050,CAACGAGACCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGG,G>A,G>R,missense,GAA
rs886040894,16,+,50794311,CTGGAGACACGGCTGCATCCCTTGCCAGAATATGGAGTTATTTGCTGTTCT,C>T,Q>*,stop-gained,CYLD
rs143141689,1,-,52397773,GCCTGTAAACGGCATTTGTTGGGCCGGAAGCCTGGTGCACAGGAAATATTC,G>A,R>Q,missense,ORC1
rs193922165,7,+,94425655,TCCCCCAGGTCGCGATGGTCAACCCGGACACAAGGTCAGTACACTTTTCAT,G>A,G>R,missense,COL1A2
rs121912464,17,+,75755785,GGGCCCACATCTCTCAGAGTGAGCTGGCAGGAGCCGCGGTGCGAGCGGCCG,G>A,W>*,stop-gained,ITGB4
rs367924428,9,+,72789207,CCTGAGGTTTCTGGCTAACTTCTTCGTGTTTCTAACACTTGGAGGGAGTGG,G>A,V>M,missense,TMC1
rs120074122_0,11,+,6391795,GCCGCCCGCATCCCGGCCAGGTGCCGGATACTGGGGCGAATACAGCAAGTG,G>A,G>R,missense,SMPD1
rs781156571,3,+,128908204,CCACAGGGAACCAATGAGATTCTCCGGATGTACATCGCCCTGACGGGTCTG,G>A,R>Q,missense,ACAD9
rs879255114,19,+,11120414,GACCACCCTGAGCAATGGCGGCTGCCAGTATCTGTGCCTCCCTGCCCCGCA,C>T,Q>*,stop-gained,LDLR
rs121908177,16,-,56502790,TTTGTAGGTTGATGCTCGAAGTGACCGAACTGGGGAGGTCATCTTTAAGGA,C>T,R>*,stop-gained,BBS2
rs758630057,7,+,148147587,CCTCTCAACGATGACCAGTGGCACCGGGTCACTGCAGAGAGGAATGTCAAG,G>A,R>Q,missense,CNTNAP2
rs766590491,1,-,215867112,CAACAGTGTGGGTTTTACACCGAGCCGAGAAGTGACTGTGACAACGTTAGC,C>T,R>*,stop-gained,USH2A
rs370667926,6,-,131603129,ACACTCCTTGAGATGTTTAGCTACCGGATGCATCATATTCAGCCTCATTAC,G>A,R>Q,missense,MED23
rs387906884,11,-,46876494,GGTGTGGCAGAACCTTGACAGTCCCCGGGCCATCGTACTGTACCATGAGAT,C>T,R>W,missense,LRP4
rs121918297,11,+,64223094,CGAGATCCTGGGCATCGCCAACAACCGACTGATCCGCATCGACTTGGCCGT,C>T,R>*,stop-gained,FERMT3
rs1057524479,17,-,37699168,GTACGCACACAAGCAGGAACCCCCCCAGTATTCCCACACCTCCCGGTTTCC,C>T,Q>*,stop-gained,HNF1B
rs121908350,10,+,71732151,CACTGACCAGGCCCCGCCCTTCAACCAGGGCTTCTGCAGCGTCTACATCAC,C>T,Q>*,stop-gained,CDH23
rs267606732,10,+,72008019,GAAGAAGTGGCTGGACGACGAGGGCCAGGACGGCCTGAGGGAAGAGGAGGT,C>T,Q>*,stop-gained,CHST3
rs1033093801,11,+,65187964,GAGCTCTGGCAAATAGGTGAACTACCGAGGCCAGGTGGTGAGCCTGATCCG,C>T,R>*,stop-gained,CAPN1
rs780401493,15,-,41394968,TATCTCCGTGTACGTGGGGATGGTCGGCCTTGGATGGTGAATATCAAGGAG,G>A,R>Q,missense,NDUFAF1
rs754533434,11,+,44107779,CATCCCAAGAATGAAGACCAAGCACCGAATCTACTATATCACCCTCTTCTC,C>T,R>*,stop-gained,EXT2
rs121912624_0,9,-,74842330,CTTGAATTTAAGGTGTTACTGTGGCCGACTGATTGGAGACCATGCTGGGAT,C>T,R>*,stop-gained,TRPM6
rs1060502301,9,-,95458029,TGCGCTGTCTTCCTTCTGAACCCCTGGACGGCCGGGATCATTGTGAGTGTA,G>A,W>*,stop-gained,PTCH1
rs758398310,14,+,75004817,GGTGATCATGACCATTGGCTTCTCCCGAACAGTAGAGGCCTTCCTCAAAGA,C>T,R>*,stop-gained,EIF2B2
rs267606876,3,-,101243615,AGCTTTGGTGGTTTTCTTCAGCCTCCGAGTGACTAACATGATGTTTTCAGA,C>T,R>*,stop-gained,IMPG2
rs120074144_1,11,+,108141688,AGTTCCAAAGCTGAAGACAGTTTTCCAGAAAGAAAATGGTTAGTGTTAAGA,C>T,Q>*,stop-gained,ACAT1
rs121908661,11,+,68386582,TGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGG,C>T,R>*,stop-gained,LRP5
rs763112609,19,+,38534774,GTACCAGCAAGCACGGCTGCACACCCGGGGGGCGGCCGAGATGGTGCTGCA,C>T,R>W,missense,RYR1
rs1057519360,1,-,11801220,TGCCGTCAGCGCCTGGAGGAGATCACGGGCCATCTGCACAAAGCTAAGCAG,C>T,T>M,missense,MTHFR
rs118192150,19,+,38584973,CCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGA,C>T,R>W,missense,RYR1
rs863225078,13,+,114325787,TTTGGATGCGATGGATATTAAGGGCCAGGAATCAAGCAGTGATCAAGAGCA,C>T,Q>*,stop-gained,CHAMP1
rs142534126,4,+,113345961,TCATTTATGAAGGAGCCAAAATCCACGAGAGGCCTGGTGCATCAAGCTATT,C>T,T>M,missense,ANK2
rs387907074,5,+,127339214,CATTCTAAACTGGTTTAAATGCACGCGGCACAGGTAATAGAAGCTCAGGCA,C>T,R>W,missense,MEGF10
rs193922117,X,+,153906179,ACCTACCCTGGGTATCGCCGCCTGCCAGGTGCTCATCTTCCGGGAGATTCA,C>T,Q>*,stop-gained,AVPR2
rs753698250_1,19,+,41422715,CGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCA,C>T,R>*,stop-gained,BCKDHA
rs200844390_1,9,+,100292952,TATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTCAGAGAGAACG,C>T,R>*,stop-gained,INVS
rs587777307,5,+,161890945,TCATTTCCACTTGAAGAGAAAGATTGGCTACTTTGTTATTCAAACATACCT,G>A,G>S,missense,GABRA1
rs587777691,12,-,15681274,CTACGGATCATCACCTACCTTTTCCCAGACGGACAGAGAACATGGTTCAAA,C>T,Q>*,stop-gained,EPS8
rs121908893_1,5,+,132385435,GCTGCCACTGTTTGCTTACTTCATCCGAGACTGGCGGATGCTGCTGGTGGC,C>T,R>*,stop-gained,SLC22A5
rs869312913,16,-,72795832,CTCTAATTTACTGAACCTTCCAACCCGAGTGATAGTGGTGTGGTTTCAGAA,C>T,R>*,stop-gained,ZFHX3
rs199473284,3,-,38551487,GCTCTTCCGAGTCATCCGCCTGGCCCGAATAGGCCGCATCCTCAGACTGAT,C>T,R>*,stop-gained,SCN5A
rs1064794308,14,-,60648861,CCCCTGGGCGCCGTGGGCAAATATCGGGTGCGCCGAAAATTTCCACTGCCG,G>A,R>Q,missense,SIX1
rs104894023,7,+,128254572,AATATCCAACGACCTGGAGAACCTCCGGGATCTTCTTCACGTGCTGGCCTT,C>T,R>W,missense,LEP
rs756077143,2,-,72132576,GGCTGGAGTGTCATGTATAGCATCCGGGACACCCATGACACAGCGCCCGTG,G>A,R>Q,missense,CYP26B1
rs1413339367,1,-,42930661,TCGTGGGGCCCTGGGCACCCTGCACCAGCTGGGCATCGTCGTCGGCATCCT,C>T,Q>*,stop-gained,SLC2A1
rs782252317,11,+,77142763,GGGGCAGGAGTTCGACGTGCCCATCGGGGCGGTGGTGAAGCTCTGCGACTC,G>A,G>R,missense,MYO7A
rs587777220,17,-,10692932,AGAGAAGGAACGGCAGCGACACATCGGCAAGCCTTTACTTGGGGGACCGTT,G>A,G>S,missense,SCO1
rs145001056,11,-,65551473,GGCTCATGCTGCTGTCACCCGCAGCCGGTGAGTGAGGAGAGGTCAGTGCAG,C>T,P>L,missense,LTBP3
rs587777427_1,18,+,26293530,AAAAGAGAATGTAACATCATGCTTCCGGTAAGAAAATAAATAGTTAAATTT,C>T,R>*,stop-gained,TAF4B
rs587784376,19,+,38475382,GCCACCGGCCACCCCCACGCTGCCCCGACTCCCTCACGACGTGGTGCCTGC,C>T,R>*,stop-gained,RYR1
rs5030859,12,-,102840492,AGGAACTTTGCTGCCACAATACCTCGGCCCTTCTCAGTTCGCTACGACCCA,G>A,R>Q,missense,PAH
rs397508775,7,+,117535315,GTGGCACTCCTCATGGGGCTAATCTGGGAGTTGTTACAGGCGTCTGCCTTC,G>A,W>*,stop-gained,CFTR
rs80357367,17,-,43057090,AGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATC,C>T,Q>*,stop-gained,BRCA1
rs199538589,2,-,128268254,GAGCCGCGAGGAGCGTCTGCTGCACCGGGCCAAGGAGGCACTGCCGCGGGA,C>T,R>W,missense,HS6ST1
rs886044766,X,-,101398539,GTGATTGGCAACTTTGGCCTCAGCTGGAATCAGCAAGTAACTCAGATGGCC,G>A,W>*,stop-gained,GLA
rs1131692148,11,-,18296891,TGAAGACTCTTGCTCCCTTCACAGCCAAACCCTCTCAGAAGATGAGAGATT,C>T,Q>*,stop-gained,HPS5
rs61754392,11,+,89284843,TTATCCAGAAGCCAATGCACCCATTGGACATAACCGGGAATCCTACATGGT,G>A,G>R,missense,TYR
rs534723946_1,9,-,132330094,CAAGCTTCCTACCACTGCGTTTACACGGAGTTCTGAGAAATCATCTGGAAA,C>T,R>W,missense,SETX
rs917027829,5,-,150069942,GACTGTTGAGACCTTAGAGCACAACCAAACCTACGAGTGCAGGGCCCACAA,C>T,Q>*,stop-gained,CSF1R
rs281875376,1,+,40292590,AACTTGGGATTCCCTGTTTCTGACTGGTTGTTCTCAATGTGGCATTATTCT,G>A,W>*,stop-gained,ZMPSTE24
rs730880699,11,-,47332640,CTTCTCCGAGGCCCCAAGCTTCACCCAGCCCCTGGTGAACCGCTCGGTCAT,C>T,Q>*,stop-gained,MYBPC3
rs768514327,15,-,34235205,TTTATTGAATATGCCAGGGCCACCCCGAAACCCTGAGGGTGATGAAAACTG,C>T,R>*,stop-gained,SLC12A6
rs1475648900,2,-,151563623,TGGTGTGGTTCACTGTCTGGATTTCCAAAAGATGAGGAGTGCGGTAAGTAA,C>T,Q>*,stop-gained,NEB
rs121913039,22,-,50527612,TGCAGCCAGAGATGTGACAGCCACCGTGGACAGCCTGCCACTCATCACAGG,G>A,V>M,missense,TYMP
rs200708870,17,+,74301064,CCACCAGGTCATGTGGTGGGACATCCGAAAGATGAGCGAGCCCACTGAAGT,C>T,R>*,stop-gained,DNAI2
rs1057520650,12,-,32868950,TACTTTCATACAGCACGAGTGCTTCCAGAAATCTGAAGCTCGGAAGAGGGT,C>T,Q>*,stop-gained,PKP2
rs794727170,X,-,32565782,AACACTGAAGAATAAGTCAGTGACCCAGAAGACGGAAGCATGGCTGGATAA,C>T,Q>*,stop-gained,DMD
rs767442358,15,+,71813572,CCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGA,C>T,R>W,missense,NR2E3
rs727503118_1,X,-,120442650,CTTTTTCAAACAGAAAAATGAAAACCGATTTTATCTGAAGGAAGTGAACAT,C>T,R>*,stop-gained,LAMP2
rs727503949,X,-,101398928,TTCACAGCCCAATTATACAGAAATCCGACAGTACTGCAATCACTGGCGAAA,C>T,R>*,stop-gained,GLA
rs786205449,1,+,156879262,CTGGCGGGTCTGCATTTTGTGCACCGGGACCTGGCCACACGCAACTGTCTA,G>A,R>Q,missense,NTRK1
rs121918450,17,+,47307584,GAAACTCCTCATCACCATCCACGACCGAAAAGAATTCGCTAAATTTGAGGA,C>T,R>*,stop-gained,ITGB3
rs113993973,14,-,50937801,CCTCTCTCTGGAATTTTACATGGGCCGAACATTACAGAACACCATGATCAA,C>T,R>*,stop-gained,PYGL
rs80356595,2,-,26476018,CACAGAGAAGCAGGCGTTCCAGCTCCGAGCGCACATGTACCAGGCCCGCAG,C>T,R>*,stop-gained,OTOF
rs886042019,16,-,89279308,CACGCAGCAGACGCGGGAGGTGATCCAGCAGACGCTGGCCGCCATCGTGGA,C>T,Q>*,stop-gained,ANKRD11
rs879254871,19,+,11113433,TAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAGGTGAGCGTC,C>T,Q>*,stop-gained,LDLR
rs747049980,15,-,48537625,CGTGGCTTCATTCCAAATATCCGCACGGGAGCTTGTCAAGGTAAACCCGGG,C>T,T>M,missense,FBN1
rs767447750,17,-,35577507,CTTTACTCTGCTAGATCTTCTGCTCCAGCAACATTATCTGTCTAGAACCAG,C>T,Q>*,stop-gained,PEX12
rs528442805,1,-,17027749,AGTCCATAGAAGAGCGTGAGAAACTGGTCATTAGTCCCTATTTATTGTTTC,G>A,L>L,synonymous-codon,SDHB
rs1064797138,1,-,216207368,AGTTCTTCTGCTATCAATCTCTCCTGGAGTCCACCTGATTCTCCAAATGCC,G>A,W>*,stop-gained,USH2A
rs121918624,2,-,166052882,GGCATTGAGAACATTCAGAGTTCTCCGAGCATTGAAGACGATTTCAGTCAT,C>T,R>*,stop-gained,SCN1A
rs386833763,4,+,15510217,AAGAGTCAAGTTCCATGATTCTGCACGAAAAATCAAGCCTAAACCCCAGGT,C>T,R>*,stop-gained,CC2D2A
rs121909122,18,-,55254694,ATCATTTGTTAACCAACAGCAAAGCCGAATTGAAGATCGTTTAGAAAGACT,C>T,R>*,stop-gained,TCF4
rs771111145,14,-,87988514,AAACTTTTTTTTTTAGGCAACCTCCCGACTTCTAGTAAATTACCCAGAGCC,C>T,R>*,stop-gained,GALC
rs199545653,17,-,8075670,CTATTATTACCCGAGTGACGCAGCCGTGGAGGGTGATCCGGAATTGCAGTC,G>A,V>M,missense,ALOX12B
rs363811,15,-,48421982,CGGCTTCACATGCAAATGTCCTCCCGGATTTACCCAACACCATACGTCCTG,G>A,G>R,missense,FBN1
rs1085307973,1,-,40314352,GGCCCCCTGGAAAAGCTGGCCCTCCGGTGAGTGCTTTATCCTCTTTGGCCT,G>A,P>P,synonymous-codon,COL9A2
rs376548651,18,-,6985385,CTCCATGTAGCACTTAGAGGATCACCAGGATAAGCTACTTTTATGGTCTGC,C>T,Q>*,stop-gained,LAMA1
rs72653795,16,-,16177614,CTTCCCTGCCCAGACACGGATTCTCGTGACGCACGCACTCCACATCCTGCC,G>A,V>M,missense,ABCC6
rs281875329_1,17,-,81511224,CATCACCATTGGCAATGAGCGGTTCCGGTGTCCGGAGGCGCTGTTCCAGCC,C>T,R>W,missense,ACTG1
rs780096892,X,+,47240362,CTGGTGGAGCCCCAGGAAGACACTCGGCTTTGGGCCAAGAACTCAGAAGGC,G>A,R>Q,missense,USP11
rs386833506,5,+,149978148,CCGTCACATCTCTGTGGGCATTTTTGGAGTACTGTGCCTTATGATTGGTGA,G>A,G>R,missense,SLC26A2
rs773852926,3,+,9928340,ACACCAGAACCTCTGGCAAGCCGCCCGACTGCAACTGCTGACCCTGCAGAG,C>T,R>*,stop-gained,IL17RC
rs773305477,5,+,119477461,TTTGCGGGGTTCATTCCAAGTGACACGGGCAGCATGGGAACACATGAAGAA,C>T,R>W,missense,HSD17B4
rs371226354,17,+,4933190,GGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACC,C>T,Q>*,stop-gained,GP1BA
rs63750604,3,+,37047577,GCCTTAGATAGTCCAGAGAGTGGCTGGACAGAGGAAGATGGTCCCAAAGAA,G>A,W>*,stop-gained,MLH1
rs797045222,9,-,136677047,GCCCGTGGGCCTCATCATGTACCTCGGGGGCGTCTTCTTCATCAACCGGCA,G>A,G>R,missense,AGPAT2
rs74315358,1,+,20644549,CACCCCAACATCATCCGGGTTCTCCGCGCCTTCACCTCTTCCGTGCCGCTG,G>A,R>H,missense,PINK1
rs886041338,2,-,144400085,TTCTCCTACTAATTCAGCCATTACCCAGTTAAGAAACAAGTTGGAGAATGG,C>T,Q>*,stop-gained,ZEB2
rs121434584,19,-,48974658,AGACCCCATCCTGACCACCATCCGCCGAATCGGCCTCTTCAATAGCAGTGC,C>T,R>*,stop-gained,GYS1
rs199473058,3,-,38630341,GTCCTCAGTCCCTTCCACCCCATCCGGAGAGCGGCTGTGAAGATTCTGGTT,G>A,R>Q,missense,SCN5A
rs121918113,16,+,28887236,ACACACGGAGCCCGTTCCTGACCCCCGAGCTGTCAACCAGGACAAGAAGAA,C>T,R>*,stop-gained,ATP2A1
rs764670582,6,+,121447563,GTTTTCTTCAAGGGCGTTAAGGATCGGGTTAAGGGAAAGAGCGACCCTTAC,G>A,R>Q,missense,GJA1
rs28933979,18,+,31592974,AGGCAGTCCTGCCATCAATGTGGCCGTGCATGTGTTCAGAAAGGCTGCTGA,G>A,V>M,missense,TTR
rs122458139,X,-,109674403,AAGCCCACACTTATGGCTGCTGTTCCGGTGAGTACAGAATATGAATATGAA,C>T,P>L,missense,ACSL4
rs121434542,16,+,68685288,GTCACAGCTGTGGGCACCCTCGACCGTGAGGATGAGCAGTTTGTGAGGAAC,G>A,R>H,missense,CDH3
rs63750792,3,+,36993630,GCGGCGGGGGAAGTTATCCAGCGGCCAGCTAATGCTATCAAAGAGATGATT,C>T,P>L,missense,MLH1
rs1438828232,16,-,89784946,CACACAGGCCTCCTTTGGGAGCACACGAGGCTACCATGGCTGCAGCAAGAA,C>T,R>*,stop-gained,FANCA
rs104893614,2,+,98396018,TTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCACA,G>A,R>Q,missense,CNGA3
rs587777107_1,15,+,39967713,CAAGGAGGATGTGTTTGAGCAAACCCGAGTTCGTTTTAGTGACAATGCTCT,C>T,R>*,stop-gained,EIF2AK4
rs879255105_0,19,+,11120379,GCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGGACCACCCTGAGCAAT,G>A,W>*,stop-gained,LDLR
rs794729280,2,-,178584552,TGTTCCTAGTGAACCAAAGAATGCACGAGTCACCAAAGTCAACAAGGACTG,C>T,R>*,stop-gained,TTN
rs760768475,9,-,129814109,GTGTATCCGAGTGGAAATGCAGTCCCGAGGCTATGAAATTGATGAAGACAT,C>T,R>*,stop-gained,TOR1A
rs372108744,2,+,241801858,AAGACGCACAAGACGGCCAGCAGCACGGTGCTCAACATCCTCTACCGCTTC,C>T,T>M,missense,GAL3ST2
rs199422231,X,-,149482997,ACTGATTGCCTATAGCCAGTATCCCCGGCCTTCAGACATCCCTCAGTGGAA,C>T,R>W,missense,IDS
rs999380946,12,+,51914046,CTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGT,C>T,R>W,missense,ACVRL1
rs1057524195,8,-,41933839,GTGTCAGACCCTGCAGAGTTACACCCAGGCTGACGAGGACCCTCAGATGTC,C>T,Q>*,stop-gained,KAT6A
rs794726759,2,-,165992342,AGTGATCCGTCTTGCTAGGATTGGCCGAATCCTACGTCTGATCAAAGGAGC,C>T,R>*,stop-gained,SCN1A
rs16904774,8,+,132888250,CATGAGCTACAGAGAAGCAGCTTCCGGAAACTTCAGTCTCTTTATTCAAAG,G>A,G>R,missense,TG
rs727503968,3,-,121790112,AAGACAGAGAGCCATGAGACTTTCCCGAGAATTGCAGCTGAGTATGCTCGA,C>T,R>*,stop-gained,IQCB1
rs886043792,17,+,42538685,GTTCCTCCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCGGCATGACCCC,C>T,Q>*,stop-gained,NAGLU
rs386834057,8,+,99859307,CCTTCCCTCTTGTGCGTTGCAGGCTGGGTAGTTGGGTCTCTGGATATTCTT,G>A,W>*,stop-gained,VPS13B
rs1057520538,X,-,53647391,CTTGCTCATTGAGTACAGCTTTTCCCGGCATCTGTACAGTTCCATAGAGGT,C>T,R>W,missense,HUWE1
rs879254093,11,+,108250928,TTATTAAAACTCTGGAATAAAATTTGGTGTATTACCTTTCGTGGTATAAGT,G>A,W>*,stop-gained,ATM
rs875989787,11,+,65206793,CACTCTCTGCAGGGAGCTGGATGACCAGATCCAGGCCAATCTCCCCGATGA,C>T,Q>*,stop-gained,CAPN1
rs727502791,12,-,8648141,GAGACTCCGTCGCTCCAATTACTTCCGACTTCCTCCCTGTGAAAATGTGGA,C>T,R>*,stop-gained,MFAP5
rs1057518249,17,+,42614520,GGTCCACAAGAGCTTGCAGAGGATCCGGGAACGCAAGTTGGCCAACTTCAT,C>T,R>W,missense,TUBG1
rs1457072724,10,-,89228209,CTCTCAGTTTCTCAGGATGAATTCTGGGCTTTCAGGTATATATGAATTGAT,G>A,W>*,stop-gained,LIPA
rs794727607,12,-,47980649,CTTCCCATTATAGGGTGCTGATGGCCAGCCTGGGGCCAAGGGTGAGCAAGG,C>T,Q>*,stop-gained,COL2A1
rs886041781,1,-,27549208,CCCGCCTGCCAACACCTACCTGCCCCAGTACGGCGGCTATGGGGCCGGACA,C>T,Q>*,stop-gained,AHDC1
rs756564767,11,-,6617627,CTTTCTGACTTGCTGGCTGAGCATCCGGTGAGAGGAAATGATTGCTCCATG,C>T,R>*,stop-gained,TPP1
rs45479192,16,+,2086292,CCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGG,C>T,Q>*,stop-gained,TSC2
rs727503278_1,14,-,23432714,CACTCCTGAGGTGGTGGCTGCCTACCGGGGCAAGAAGAGGAGCGAGGCCCC,C>T,R>W,missense,MYH7
rs773770609,17,-,6695784,CCTGCTGGTCATCCTGTGGTTCTCCCGAGACCCCGGCTTCATGCCCGGCTG,C>T,R>*,stop-gained,SLC13A5
rs68031618,X,+,38352773,CACAACTTCATGGTTCGAAATTTTCGGTAAGTGATGGTCAGAGACTTGGGT,G>A,R>Q,missense,OTC
rs119476050,14,+,50628154,GAAGATGGGTGGGGAAGAATTTAGCCGGCGTTACCTGCAGCAGTTGGAGAG,C>T,R>W,missense,ATL1
rs144689354,2,-,25243931,CCCAGCTGAGAAGAGGAAGCCCATCCGGGTGCTGTCTCTCTTTGATGGAAT,C>T,R>W,missense,DNMT3A
rs397516207,14,-,23417597,TCCTCGCTGGAGAAGACCAAGCACCGGCTACAGAATGAGATCGAGGACTTG,G>A,R>Q,missense,MYH7
rs63751275,3,+,37048973,AGAATGCGCTATGTTCTATTCCATCCGGAAGCAGTACATATCTGAGGAGTC,C>T,R>W,missense,MLH1
rs121913323,19,+,1220416,TGACGGCCTGGAGTACCTGCATAGCCAGGGCATTGTGCACAAGGACATCAA,C>T,Q>*,stop-gained,STK11
rs1057519063,15,-,91013842,TGTCAATGCTGACAAATTGGCTGGCCGAACTCGCAAATACAAAGTGATCTT,C>T,R>*,stop-gained,VPS33B
rs146187042,1,-,56956889,ACAGTACAGGTATGCCTACTTGCTCCAGCCCTCTCAGTTCCATGGGGAACC,C>T,Q>*,stop-gained,C8B
rs72551349_1,2,+,233767873,GGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACAC,C>T,R>*,stop-gained,UGT1A1
rs780107088,16,+,5073170,ACTTGCAGTTGGGCCCCGAGTTTTCCAGTACGGAGTCAAAGTTGTACTTCA,C>T,Q>*,stop-gained,ALG1
rs144133667,4,+,39470027,GTCCTGCTGTTTTCCAGTAAGGTTCGTGATCCTCGGGCCAATTTTGATCAG,G>A,R>H,missense,LIAS
rs1028534806,22,-,17592721,CTCTCCACAGATGATGCCAGAAGTCCGGGGAGCCTTGTTTGGTGCAAATGC,C>T,R>W,missense,ATP6V1E1
rs104894858,X,-,120442599,CAGCATGTATTTGGTTAATGGCTCCGGTAAGCAAAGCACTGGCCTGGGGAA,G>A,V>I,missense,LAMP2
rs1131692030,19,+,12896210,ACCGACTGTTCCATCCCCAGGATCACGAACTCGCCTATGGCCGATCTGTTT,C>T,T>M,missense,GCDH
rs775380022,2,+,218890268,CGGCTGCAGCCCCGACATGGGCTTCGGGGAGCGCTTTTCTAAGGACTTTCT,G>A,G>R,missense,WNT10A
rs1064795464,18,-,7015724,GGGCTACGATGCGGAGGTGGGGTGCCAGGTGAGCACTGTCATCCACGCTCT,C>T,Q>*,stop-gained,LAMA1
rs797045033,17,-,50189239,TACTCCCGGGCCTCAAGGTATTGCTGGACAGCGTGGTGTGGTCGGCCTGCC,G>A,G>R,missense,COL1A1
rs879254171,11,+,108302947,CCTCTAAGTGAAAATCATGACATTTGGATAAAGACACTGACTTGTGCTTTT,G>A,W>*,stop-gained,ATM
rs113994135,17,-,42329643,GATTGTTCCCCTGTGATTCAGATCCCGGAAATTTAACATTCTGGGCACAAA,C>T,R>W,missense,STAT3
rs63751460,3,+,37042284,TATTTTCAGTGAAGAACTGTTCTACCAGATACTCATTTATGATTTTGCCAA,C>T,Q>*,stop-gained,MLH1
rs111033215,11,+,77206108,TGCTGCCTTTTCAGAAACGGGTCCCGGAAGTACCCTCCGCACCTGGTGGAG,G>A,R>Q,missense,MYO7A
rs28933369,17,+,39724744,TCCCCAGGAAGCATACGTGATGGCTGGTGTGGGCTCCCCATATGTCTCCCG,G>A,G>S,missense,ERBB2
rs1302427305,16,-,3792074,CATAGTTGCCCATTGTGCATCTTCACGACAAATCATCTCTCATTGGAAGAA,C>T,R>*,stop-gained,CREBBP
rs753824908,21,+,45504431,CCGTCCACAGGGGGAGAAGGGAGACCGAGGTGATGCAGGACAGAAAGGCGA,C>T,R>*,stop-gained,COL18A1
rs749110767,11,+,126276122,ATGCGCCATTGTGATCAACGCAGCCGGAGCCTGGTCTGCGCAAATCGCAGC,G>A,G>R,missense,FOXRED1
rs104894471,14,+,67724588,GGAGACGGCCAGAGAGCTCGCTAGCCGAGGTAAGTGTTTCCCCTTTAGTCT,C>T,R>*,stop-gained,RDH12
rs763722868,2,-,178775572,GGGCCAAGGATCTGATGCACACTTCCGGGTCAGAGTCGTGGGGAAACCAGA,C>T,R>W,missense,TTN
rs587784214,5,+,177294024,AATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCG,G>A,R>H,missense,NSD1
rs864622615,11,-,64805171,CACCCAGAGCCAAGGTTCCGCCCTCCAGGACCCTGAGTGCTTCGCCCACCT,C>T,Q>*,stop-gained,MEN1
rs351855,5,+,177093242,CTTGGCTGTGCTCCTGCTGCTGGCCGGGCTGTATCGAGGGCAGGCGCTCCA,G>A,G>R,missense,FGFR4
rs72658118,7,+,94412095,TCTTCCTGGTTCCCCTGGAAATATCGGCCCCGCTGGAAAAGAAGGTCCTGT,G>A,G>S,missense,COL1A2
rs753679297,19,+,12810324,TGCCTGTTTTGCCCACAGGTGGCCCGGGACCAGGCCGTGAAGAAATGGCAG,G>A,R>Q,missense,RNASEH2A
rs1273352530,5,-,13830621,CAATTGTTCAGACCAGATGGATTTCCGAGGACTTGGACGGATTTTTAAGGG,C>T,R>*,stop-gained,DNAH5
rs267607017,8,-,10623069,CACCTTCCTCAAGCGAGGGGATCCACGGTTTGCTGGGGTCCGCCTGGCCGT,C>T,R>W,missense,RP1L1
rs78802634,7,+,117611707,GCTCTGAATTTACATACTGCCAACTGGTTCTTGTACCTGTCAACACTGCGC,G>A,W>*,stop-gained,CFTR
rs121918446,17,+,47286363,GGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGG,C>T,R>W,missense,ITGB3
rs374997012,10,+,100989114,CTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGA,C>T,R>W,missense,TWNK
rs952741388_1,11,-,78493158,AGTGTTTACCTTTGGTCCGACCTTCCGAGCTGAAAATTCTCAGAGCCGGAG,C>T,R>*,stop-gained,NARS2
rs113249837,15,-,48456691,GTGTATCAACATGGTTGGCAGCTTCCGATGTGAATGTCCAGTGGGATTCTT,C>T,R>*,stop-gained,FBN1
rs121912582,1,+,22907980,AAACGATGGGCAGTTCACAGTCATCCAGCTGGTGGGCATGCTTCGGGGCAT,C>T,Q>*,stop-gained,EPHB2
rs41293465,17,-,43045767,GATGTGTGAGGCACCTGTGGTGACCCGAGAGTGGGTGTTGGACAGTGTAGC,C>T,R>*,stop-gained,BRCA1
rs1085307962,X,+,67711404,AAGTCTCTCTTCCTTCCCAATAGCCCGGAAGCTGAAGAAACTTGGTAATCT,C>T,R>W,missense,AR
rs267608469_1,X,-,154031446,TCTTTCTGTTTGTCCCCACAGTCCCCAGGGAAAAGCCTTTCGCTCTAAAGT,C>T,Q>*,stop-gained,MECP2
rs387907259,2,-,240773246,CCCTCTGCCACCCAGGTATGCTGACCGGGCCAAGCAGATCCGCTGCAATGC,C>T,R>W,missense,KIF1A
rs746873768,2,+,71553092,GCTGCAGGATGTGGATGATGCCATCCAGTTTGAGGTCAGCATCGGGAACTA,C>T,Q>*,stop-gained,DYSF
rs372770167_1,2,+,231214912,GGAGGAGCACATTTCAAGTTCCATCCGAGATGGGGACTCCTTTGCCCAGAA,C>T,R>*,stop-gained,ARMC9
rs180177173,2,+,240869004,GGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCA,G>A,G>R,missense,AGXT
rs1131691768,12,-,49032239,CATGACCCAGAACCTTCTGGGCCCCCAACAGCCCATGCTAGAGCGGCCCAT,C>T,Q>*,stop-gained,KMT2D
rs80338657,1,-,235788701,CCCCACAATGCCACTCTTATCTTTCGGTATTGATTATCCTCAGCCTCCCAT,G>A,R>H,missense,LYST
rs797044955,3,+,4645673,AAGCAGCACGTCTTCCTGAGAACCACGGGCCGGCAGTCGGCCACATCTGCC,C>T,T>M,missense,ITPR1
rs936639741,11,-,793551,CAAGCTGGCAGCCAACGACTTCTTCCGACATCAGCTCTCTAAGGACGGGTG,C>T,R>*,stop-gained,SLC25A22
rs121908897,3,+,58148771,CCAGTCGGAGATTGGTGACGCCCGCCGAGCCAAAGTCTATGGCCGCGGCCT,C>T,R>*,stop-gained,FLNB
rs746763506,9,+,105604452,CATTGACAGGAAATTTGTTCCCTTCCGAAAGTTACAGTTTGGTCGTTATCC,C>T,R>*,stop-gained,FKTN
rs80358294,11,-,86951506,GGTTTGGTGGCCTTGTTCAAAATTCGGTCAAATCTTCAAAAGGATGGGACA,G>A,R>Q,missense,FZD4
rs121434313,15,+,38299410,ACGAGTGCGAGCTGTGGTGATGACCCGAGATGACTCAAGTGGTGGATGGTT,C>T,R>*,stop-gained,SPRED1
rs876659517,5,+,112835080,GGTTGGCACTCTTACTTACCGGAGCCAGACAAACACTTTAGCCATTATTGA,C>T,Q>*,stop-gained,APC
rs763566905,11,+,6393982,TTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGCA,G>A,R>Q,missense,SMPD1
rs118204020,14,-,50269164,TATCTTGTAAAAGGAAATATTTATCCGGTAGGTAATGATGCTTCCTACTTC,C>T,P>L,missense,L2HGDH
rs62654864_1,5,+,37022298,ATTGATGGATAATTCGACTAGTGTCCGAGAAGCAGCAGTAGAATTACTAGG,C>T,R>*,stop-gained,NIPBL
rs137852749,2,+,202552774,TGTTGGGACCAGGATGCAGAGGCTCGGCTTACTGCACAGTGTGCTGAGGAA,G>A,R>Q,missense,BMPR2
rs748313513,2,-,178799836,TCAGATCTCAGAATCAAGACAAACCCGAATTGAAAAGGTATTTTTCTATAC,C>T,R>*,stop-gained,TTN
rs1131690851,13,+,48379606,TGTTTGTTTGTAGCGATACAAACTTGGAGTTCGCTTGTATTACCGAGTAAT,G>A,G>R,missense,RB1
rs1057519342,7,+,4789856,GGTGGCTGACGGGTCCCTGATCAACCAGCTGGCGCTGCTGCTCCTGGGCAG,C>T,Q>*,stop-gained,AP5Z1
rs61755793,6,-,42721820,AAATGCTGCGGCAACAACGGTTTTCGGGACTGGTTTGAGATTCAGTGGATC,G>A,R>Q,missense,PRPH2
rs75718910,19,+,12813149,GTGTTCGGCTTCCCCCAGTTTGTCCGGTTCAGCTGGCGCACGGCCCAGACC,G>A,R>Q,missense,RNASEH2A
rs761848742,9,+,131521439,CCTGCTGTCCTTGTGGTACCTGCTCCGACGGCGAAGAAATGTCCATGACCT,C>T,R>*,stop-gained,POMT1
rs121912829,3,-,48575401,CCTTGCCGGGGAGCCTGGAAAGCCTGGTATTCCCGGGCTCCCAGGCAGGGC,G>A,G>S,missense,COL7A1
rs104894855,X,-,133753919,AGCCTTGGACATCAATGAGTGCCTCCGAGGAGCAAGACGTGACCTGAAAGT,C>T,R>*,stop-gained,GPC3
rs104886250,X,+,108668408,CGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCC,G>A,G>S,missense,COL4A5
rs878853147,X,+,71169399,GAAACCAAGGGTCCGAGATCATTACCGGGCCACTAAGGTGGCCTTTTGGAA,C>T,R>W,missense,NLGN3
rs760889253_1,12,-,21882807,CCTGGACAGCTATGAGCAATCAACACGGCGTCTACGTCCCGCAGAAACAGA,C>T,R>W,missense,ABCC9
rs587781208,15,-,25356860,TACGATGAATCTACAAAATTGTTTTGGTTTAATCCATCTTCTTTTGAAACT,G>A,W>*,stop-gained,UBE3A
rs1135402872,17,+,31327722,TCTATCATTCATATCCGGACCCGCTGGGAACTGTCACAGCCCGACTCTATC,G>A,W>*,stop-gained,NF1
rs80356779,11,-,68780662,GCTGAACACTCCTGGGCAGATGCGCCGATCGTGGCCCACCTTTGGGAGGTG,C>T,P>L,missense,CPT1A
rs104893850,4,+,4862808,GCTGGCGCTGGAGCGCAAGTTCCGCCAGAAGCAGTACCTGTCCATCGCCGA,C>T,Q>*,stop-gained,MSX1
rs80356487_1,17,+,42911391,CAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAA,C>T,Q>*,stop-gained,G6PC
rs869312955,6,+,33446710,CAAAATCCTGATGCAGTATCAGGCCCGACTGGAGCAGAGTGAGAAGAGGCT,C>T,R>*,stop-gained,SYNGAP1
rs587783037,15,+,90803577,ATTTGGAAAAGGATCTGCTTATTCACGACACAATGCCGAAAGACTTTTTAA,C>T,R>*,stop-gained,BLM
rs1057519322,19,+,3193404,GCAGACCCAGGCTGCCTCCGCCTCCCAGGGCTCCGCCTCTGCTGCTGAAGG,C>T,Q>*,stop-gained,NCLN
rs747480526,16,+,89934984,GTGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACG,C>T,T>M,missense,TUBB3
rs770038577_1,2,-,178561042,AAGAGTTATGATGGATGTCAAGTTCCGAGACGTTATTGTTGTCAAAGCTGG,C>T,R>*,stop-gained,TTN
rs886041291,21,+,37490297,CCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCAC,C>T,R>*,stop-gained,DYRK1A
rs864309483,3,-,123352464,GGAGACCCGAGAGTGCATCCAGGCGCGGCTCCACTCGCAGCGGGAGAACCA,C>T,R>W,missense,ADCY5
rs777566074,16,-,16221677,CACCACCATGGCCGGGGCTACCTCCGGATGTCCCCACTCTTCAAAGCCAAG,G>A,R>Q,missense,ABCC6
rs587777450,18,-,10671729,GTCCTTGTGATTGGGAAATTTGTCCGTGAATTCTTCAGTGGGATTTCTCAC,G>A,R>H,missense,PIEZO2
rs72549401,2,-,168970131,GGTAGCTATCGCCAGAGCCCTCATCCGAAATCCCAAGATTCTGCTTTTGGA,C>T,R>*,stop-gained,ABCB11
rs139574075_1,3,-,15453899,CCGTGCCTACTGTGGAGATGGTCACCGGCATGAGGGTGTGGAGGACTGTGA,C>T,R>W,missense,COLQ
rs794728130,6,+,7584112,TGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCT,C>T,R>*,stop-gained,DSP
rs80359205,13,+,32394749,TACAATTTACTGGCAATAAAGTTTTGGATAGACCTTAATGAGGACATTATT,G>A,W>*,stop-gained,BRCA2
rs533885672,2,+,218814075,CCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGT,C>T,Q>*,stop-gained,CYP27A1
rs121909801_1,12,-,47879026,CCGGATCTGTGGGGTGTGTGGAGACCGAGCCACTGGCTTTCACTTCAATGC,C>T,R>*,stop-gained,VDR
rs863225318,5,+,112828887,GCGAGTGTTTTGAGGAATTTGTCTTGGCGAGCAGATGTAAATAGTAAAAAG,G>A,W>*,stop-gained,APC
rs386833874,19,-,35848349,CATGTCCAACCTGACATTCCTGGCGCGGCGGGAGGACAACGGTCTGACCCT,C>T,R>W,missense,NPHS1
rs727504329,11,-,47343505,ATGGCTCAAGAATGGCCAGGAGATCCAGATGAGCGGCAGGTGCAGCCTGGG,C>T,Q>*,stop-gained,MYBPC3
rs397516291,11,+,77174783,GTTCGACCGGCACCTGTGCGTGCGCCAGCTGCGGTACTCAGGAATGATGGA,C>T,Q>*,stop-gained,MYO7A
rs374090960,11,+,2587631,TCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCCCGGAGCCACACTCTG,G>A,R>Q,missense,KCNQ1
rs185142838,10,-,49461473,TGTACTGGTGGAGGCAGAAGCCAACCGAGTGGCCCAGGATGCCCTGAAAGC,C>T,R>*,stop-gained,ERCC6
rs1236566474,4,-,5685441,TGCTGTCAGCTACGCAGCCACGCTCCAGGCTGGAGACCTCGGGAACGGGGA,C>T,Q>*,stop-gained,EVC2
rs1489351299,2,-,227030449,TCCAGGATGTGATGGAAAAGATGGCCAGAAAGGTATGAATGTTGTTCCGTT,C>T,Q>*,stop-gained,COL4A4
rs397516471,1,-,201363348,AGGAGGAAGGCTGAGGATGAGGCCCGGAAGAAGAAGGCTTTGTCCAACATG,G>A,R>Q,missense,TNNT2
rs61750639,1,-,94007710,TGGCCTCCTGGGAGTGAATGGTGCCGGCAAAACAACCACATTCAAGATGCT,G>A,G>S,missense,ABCA4
rs587779531,2,+,188991049,AGAAAAGGGTGAAACAGGTGCTCCTGGATTAAAGGTAAATCACAACAAAAA,G>A,G>R,missense,COL3A1
rs1085307066,5,-,128274648,ATGTCAAACAAAGCAGCATAACTGCCAGTTCCTCTGTGTCAACACCCTGGG,C>T,Q>*,stop-gained,FBN2
rs769236847,7,-,97869011,ACCAACTGCTGCTTTGGATTTCACCGGTTGGCGGTAGTTGACCCGCTGTTT,G>A,R>Q,missense,ASNS
rs150855173,19,-,35831092,CCGCTCCCTGAGGGACTTCAGCCCCCAGCTGCCCCCGACGCAGGAGGAGGT,C>T,Q>*,stop-gained,NPHS1
rs534534437,1,-,216289375,TGAGCTGTGCAAGGATTACTTTTTCCGACAAGTTGGTGCAGATCCTTCGGC,C>T,R>*,stop-gained,USH2A
rs104894374_1,12,+,55721847,GCCTCTGCTGCAGCAAGCCCGGGGCCGGGTGATCAACATCACCAGCGTCCT,C>T,R>W,missense,RDH5
rs1057517686,1,+,1529299,TCGGCTGACGGAGGGCATGTCGGGCCGGGAGATCGCTCAGCTGGCCGTGTC,C>T,R>W,missense,ATAD3A
rs137853332,X,+,154563602,GACTTCCAGGCTGAGAGGCAGGCCCGGGAGAAGCTGGCCGAGAAGAAGGAG,G>A,R>Q,missense,IKBKG
rs767543051,7,+,66082925,AGGGAAGCTGCACACGGGACGGAGCCGGAATGACCAGGTGCTTTAGCCCCT,C>T,R>W,missense,ASL
rs387906409,10,+,123053160,GAAATACTTCCGAGATGCAAAGATTGGTAAATAGATTTTTTTTTTTTACAT,G>A,G>S,missense,ACADSB
rs1131691126,17,+,31181717,GTGGTTCTTTATTTATAGGCATTTTGGAACTGGGTAGAAAATTATCCAGAT,G>A,W>*,stop-gained,NF1
rs768345594_1,2,-,178585291,AACTATCAAAGCTGGGAAAAAACTCCGAATTGAAGCCCATGTGTATGGAAA,C>T,R>*,stop-gained,TTN
rs104894630,17,-,10692805,TTCACTCATTGCCCTGATGTCTGTCCAGAAGAACTAGAAAAGATGATTCAA,C>T,P>L,missense,SCO1
rs749645231,11,+,22221136,GCAAAGCAAAGATTCTATCTTCTTCCGAGATGGGATTAGGCAAATTGATTT,C>T,R>*,stop-gained,ANO5
rs121912863,2,-,227008112,AGCCGCTGTGCGGTATGCGAGGCCCCGGCCCAGGCGGTGGCGGTGCACAGC,C>T,P>L,missense,COL4A4
rs727504292,3,+,30672250,CGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGAT,G>A,R>Q,missense,TGFBR2
rs199473072,3,-,38613773,AGCCTTACGCACCTTCCGAGTCCTCCGGGCCCTGAAAACTATATCAGTCAT,C>T,R>W,missense,SCN5A
rs886037753,17,-,41769418,CCAAACTGCTCAACGACGAGGACCCGGTCTGTGAGGGTCCCTGCTAGGGTG,G>A,P>P,synonymous-codon,JUP
rs794728040,2,+,188992914,CCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAA,G>A,G>R,missense,COL3A1
rs587784386,X,+,74421914,GACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTG,C>T,Q>*,stop-gained,SLC16A2
rs1187839124,2,-,181544762,TGGAAGTATGGCTCTTATAATTGCCCGAAACACTTCTCGGCCAGAATTTAT,C>T,R>*,stop-gained,CERKL
rs111033334,1,-,216247185,TTGCAATTTTGGATTTAAATTTCTCCGAAGCTTTAATGATGTTGGATGTGA,C>T,R>*,stop-gained,USH2A
rs267606971,14,-,77302940,CCAGCGAGCTCATGTTTTTCAGACACGGGATGCCTCACTCTGTCCCAGTAC,C>T,T>M,missense,POMT2
rs121908317_1,8,-,142741169,CGCCCACCTGATCTTCTGCTGCTTCCGAGACCTCTGCAACTCGGAACTCTG,C>T,R>*,stop-gained,SLURP1
rs137853265,X,-,54467901,TGTGCCCGGCTGCTGGAAGAAGCTCGGAACCGCAGTTCCTTCCCGGCCGAC,G>A,R>Q,missense,FGD1
rs772049322,X,+,38403711,CATCATGATGAGCGCAGCGAAATTCGGAATGCACCTTCAGGCAGCTACTCC,G>A,G>R,missense,OTC
rs374946172,7,+,117592520,AGTTAACCAAGGTCAGAACATTCACCGAAAGACAACAGCATCCACACGAAA,C>T,R>*,stop-gained,CFTR
rs180177312,9,+,37428557,CACGCAGAGCACTGTCGGCATCATCGGGCTGGGGCGCATAGGTGAGGCTCC,G>A,G>R,missense,GRHPR
rs137853042,19,-,35831358,TCATCCTGGAAGGTCGGAAGAGGACCGAGTCAGGAACGAATATGAGGAGAG,C>T,R>*,stop-gained,NPHS1
rs148936893,22,-,17203564,ATGGAGATCAGAGCCAGGCTGCTGCCGGTGAGCCCAGCTCTCCTCTCTGTT,C>T,P>L,missense,ADA2
rs72554308,X,+,38367332,CAAAATAAAGTGCAGCTGAAGGGCCGTGACCTTCTCACTCTAAAAAACTTT,G>A,R>H,missense,OTC
rs121434608,X,+,154438819,GCCCCCTGAGTCGATGGGCCGAGGCCGAGACTGGAATGTTGACCTGATTCC,C>T,R>*,stop-gained,GDI1
rs121434554,2,-,237381419,GGGACTGGCCAACTTCAATGCCATCCGAGACTTCATTGCTAAAGTCATCCA,C>T,R>*,stop-gained,COL6A3
rs121907914,11,-,31801611,CCCGTCCATCTTTGCTTGGGAAATCCGAGACAGATTACTGTCCGAGGGGGT,C>T,R>*,stop-gained,PAX6
rs886040966,5,-,122077861,GAGCCGCCGGCGGCTCCGGGCGCCTGGCGCCAGCAGATCCAATGGGAGAAC,G>A,W>*,stop-gained,LOX
rs776483190_1,1,-,11802980,GACCCCGAGCGGCATGAGAGACTCCGGGAGAAGATGAGGCGGCGATTGGAA,G>A,R>Q,missense,MTHFR
rs63749827,3,+,36993623,CCGCATCGCGGCGGGGGAAGTTATCCAGCGGCCAGCTAATGCTATCAAAGA,C>T,Q>*,stop-gained,MLH1
rs137853859_1,1,-,23797718,CAAGTTCTTCATCGAGGAAATGATCCGGGACCTGTGCCAGGCAGACAAGGT,C>T,R>W,missense,GALE
rs397515848,15,-,48427591,TTTCAAGAAACTCTGTCCCCATGGCCGAGGATTCATGACCAATGGAGCAGG,C>T,R>*,stop-gained,FBN1
rs1131691164,11,+,108292689,TTGTGACTTATTAAGTCAGGTTTGCCAGACAGCCGTGACTTACTGTAAGGA,C>T,Q>*,stop-gained,ATM
rs138119149,6,-,44304512,TCAGGACGTGCTGTTCCCAGTAGCCCGGGCCCAGGTCTGTGGAGGTTTCAT,C>T,R>W,missense,AARS2
rs1057517329,4,-,177438762,TTCAGATTGGCTTGCTCGGAATTGCCAGCCAAATTATTGGAGGGTATGCAC,C>T,Q>*,stop-gained,AGA
rs121918242,1,+,45508266,TGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGAC,C>T,R>*,stop-gained,MMACHC
rs577932201_1,14,+,21325330,GGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCT,C>T,Q>*,stop-gained,RPGRIP1
rs121912558,6,+,75914119,CAGGCAGCGGGAGATTGAAATGAACCGACAGCAACGCTTCTTCCGCATCCC,C>T,R>*,stop-gained,MYO6
rs754391973_1,10,-,53961790,AGAAGATTCTGGAAGAGTAATAACACGAGTCAATCTTAATGAAGAACCTAC,C>T,R>*,stop-gained,PCDH15
rs72549397,2,-,168932421,TGCACGCTTTTTTCAACTGCTGGACCGACAACCCCCAATCAGTGTATACAA,C>T,R>*,stop-gained,ABCB11
rs397518481_1,3,+,25501230,GAAGAATATGATTTACACTTGTCACCGAGATAAGAACTGTGTTATTAATAA,C>T,R>*,stop-gained,RARB
rs1249942711,19,+,38486164,CCCCGTCGGGGGCTCCGTGGAGTTCCAGTTTGTGCCTGTGCTCAAGCTCGT,C>T,Q>*,stop-gained,RYR1
rs863223777,12,-,114403757,GTCGTCCCCGCAGGCCGCCTTCACCCAGCAGGTAAGGAGACCTCGCGCTTC,C>T,Q>*,stop-gained,TBX5
rs587784464,18,-,55350904,CTATCAGTATTCTAGCAATAATCCCCGAAGGAGGCCTCTTCACAGTAGTGC,C>T,R>*,stop-gained,TCF4
rs878854441,7,+,21600797,ACCCTGGAGACCCACACTTACCTCTGGGTGGATGATCGAGCTGAGTTTATG,G>A,W>*,stop-gained,DNAH11
rs794727579,1,-,215998943,CATCTATAACAGTACAGAACTTTTCCAGGATCATATGCTACAATACGTTTT,C>T,Q>*,stop-gained,USH2A
rs746260871_2,7,-,82949964,CATAAGAACACCCTCCATACGGGCACGAGTGGATGCCAAGGTAGAAATAAT,C>T,R>*,stop-gained,PCLO
rs386833920,19,-,35842191,TTCTGCCACCCTCCACTGCCGTGCCCGAGGTGTCCCCAACATCGTTTTCAC,C>T,R>*,stop-gained,NPHS1
rs606231456,5,+,150545467,ACCATCCTCATCAACCCCGCGGACCGGGCCTATTCCTGGTACCAGGTGAGT,G>A,R>Q,missense,NDST1
rs118203972,12,+,32598566,GCTTACTGAAAGAGCTTATGTCAACCGACTTGACCTCTTAGATCAGGTAAG,C>T,R>*,stop-gained,FGD4
rs28937888,8,-,142741199,TGTGGCCACCGACCCCGACAGCATCGGGGCCGCCCACCTGATCTTCTGCTG,G>A,G>R,missense,SLURP1
rs786205232,1,-,110603893,TCACTGGCCATCCTCCGTGTCATCCGGTTGGTAAGAGTCTTTAGGATTTTC,G>A,R>Q,missense,KCNA2
rs398122418,15,-,23644619,CAAGGACCAAGCCAAGGTGCCTGTCCAGCGCTCGGAGATGGTGAAAGTCAT,C>T,Q>*,stop-gained,MAGEL2
rs104894004,7,+,30912022,GGTTCTGCCCTGGGCTTCAAATACCCGGTGGGGAACAACCAGACGGCGGTC,C>T,P>L,missense,AQP1
rs121918206,1,+,173838206,CAATTGTAGATATTTTCAGGTTGCCCGATGTTATCGAGATGAAGGTTCAAG,C>T,R>*,stop-gained,DARS2
rs80357352,17,-,43071104,TTCAACCTCTGCATTGAAAGTTCCCCAATTGAAAGTTGCAGAATCTGCCCA,C>T,Q>*,stop-gained,BRCA1
rs767978562,13,+,38851093,ACAAAATGAAACTCTCATAAGGATCCGAGATGATGCTGATAGTAAGAAATC,C>T,R>*,stop-gained,FREM2
rs121908422,11,+,134261338,CTCACCCGAGACCACCTCAATGTCCGGAAGCAGTTTGGAGAGCCTCTGGCC,G>A,R>Q,missense,ACAD8
rs397517982,1,-,215675172,TAAAATCTACACTTGGAATTCAGCTGGGCATACCTGTAGCTCTTGGAATGT,G>A,G>R,missense,USH2A
rs201553266,2,-,151551738,TTCATGCATACAAGCTCCAGAGTTCGGTGAGCAGTGAGAACTTGAGAGTGC,G>A,S>S,synonymous-codon,NEB
rs786205528,2,-,96115486,TGGGCAGGGTGAGTCCAAGCAGCCCCGACCCGACCATGGTGGGGCTTTGGC,C>T,R>*,stop-gained,ADRA2B
rs387907235,8,-,38146036,TGTGAGCGTGCGCTGTGCCAAGCGCCGAGGCTCCACCTGTGTGCTGGCTGG,C>T,R>*,stop-gained,STAR
rs121909743,3,-,171005347,TCAGCTCTTCACCAATTCCAGCTACCGACAGCCTATTCTAGTGGCACTGAT,C>T,R>*,stop-gained,SLC2A2
rs149566858,5,-,1278750,GACACCATCCCCCAGGACAGGCTCACGGAGGTCATCGCCAGCATCATCAAA,C>T,T>M,missense,TERT
rs104893963,6,+,121446908,CAAGGTTCAAGCCTACTCAACTGCTGGAGGGAAGGTGTGGCTGTCAGTACT,G>A,G>R,missense,GJA1
rs60791294,16,-,16163086,ACGTTCCAGGGCAGCACAGTGGTCCGGGCATTCCGAACCCAGGCCCCCTTT,G>A,R>Q,missense,ABCC6
rs201391050,6,-,135457660,TGATGGTGTTCATGAAATAACAAGCCGAGATAGCCCGGTTTATCCCAAATG,C>T,R>*,stop-gained,AHI1
rs766673446_1,5,-,177994114,CCGGGACACTGGCCTCAGTGAGGCCCGAATCCAGGTGATGCTCCAGGATCC,C>T,R>*,stop-gained,PROP1
rs199475663,12,-,102866641,TAGGGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGAC,G>A,R>H,missense,PAH
rs144071404,22,-,42619922,AGCCTGGGACTACGGCCAGGGCTTCGTGAATGAGGAGATGATCCGGGACCA,G>A,V>M,missense,CYB5R3
rs1060500435,2,-,178546612,TGAATCTACAGGCCCTGTCACTTGCCGAGATGAATACGGTAGGAAATAGTC,C>T,R>*,stop-gained,TTN
rs886041181,X,-,85956181,TCCATTTTTGTTTCCTTTATATGGCCAAGGAGAACTCCCCCAGTGTTTCTG,C>T,Q>*,stop-gained,CHM
rs199473055,3,-,38630393,ACTGAATAAAGGCAAGACCATCTTCCGGTTCAGTGCCACCAACGCCTTGTA,C>T,R>W,missense,SCN5A
rs367576664,6,-,75950867,TCCACCTGCATCTTCAGATGACAGCCGATCAAGTGCAGGTGGCGAAGATAT,C>T,R>*,stop-gained,IMPG1
rs886043243,1,+,7745021,CTGCCTTCCCAGTGCTGCCCAGATCCGGTGAGTAAAGTTACGGAGGTCACT,C>T,R>*,stop-gained,CAMTA1
rs122462165,X,+,137567659,CTGGTCAACCACATCCGAGTGCACACGGGCGAGAAGCCCTTCCCATGCCCC,C>T,T>M,missense,ZIC3
rs79378857,3,-,48583584,TCTGAGGATGGAGCTCCAGGCCTCCCAGGACAACCTGGGTCTCCGGGTGAG,C>T,P>L,missense,COL7A1
rs121917708,2,+,120978500,TGTGTGCCGCTGGCAGGCCTGCACGCGGGAGCAGAAGCCCTTCAAGGCGCA,C>T,R>W,missense,GLI2
rs372893383,16,-,88814449,GAATCCATTCCCAAGAAGTGCCTCTGGTCCCACTAGCACCTGCGCAGACTC,G>A,W>*,stop-gained,GALNS
rs104894673,19,+,47839335,TATCCCCCAGGTTTGGTTCAAGAACCGGAGGGCTAAATGCAGGCAGCAGCG,C>T,R>W,missense,CRX
rs749968109,3,-,53092502,GCCAACTGCTTTAACATGGGCATTCGGATCACGCAGAGCCTTTGCTTCATC,G>A,R>Q,missense,RFT1
rs387906770_1,8,+,11708439,CTCGCCAGTCTACGTGCCCACACCGCGGGTGCCCTCCTCCGTGCTGGGCCT,C>T,R>W,missense,GATA4
rs138726443_2,1,-,152307547,ACAAGGATCCCACCACAAGCAGGCACGAGACAGCTCCAGGCACTCAACGTC,C>T,R>*,stop-gained,FLG
rs61750174,17,+,8014704,CTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAG,C>T,T>M,missense,GUCY2D
rs121965014,22,-,42630986,AGTGACCCCGTTCTGTCCTGCAGGCCAGCACATCTACCTCTCGGCTCGAAT,C>T,Q>*,stop-gained,CYB5R3
rs1085307871,6,+,33432769,ACTTGACCGGACCAGCAGCTTTCGCCAGATCCTGCCTCGCTTCCGAAGTGC,C>T,Q>*,stop-gained,SYNGAP1
rs875989921,19,+,11113624,GCCCCCGACGGGCTGGCTGTGGACTGGATCCACAGCAACATCTACTGGACC,G>A,W>*,stop-gained,LDLR
rs193922289,7,-,44152420,ACTTCTCTCTGTGCCTTTAGAAGTCGGGGACTTCCTCTCCCTGGACCTGGG,G>A,G>R,missense,GCK
rs727504936,2,-,26476176,TGGCTTCCAGGAGGTCAAGGCAGCCCAGGGCCTGGGCCTGCATGCCTTCCC,C>T,Q>*,stop-gained,OTOF
rs753850982,1,+,237783995,CTTCCACGAACCTGCGAAGGACATCGGCTTCAACGTCGCCGTCCTTCTGAC,G>A,G>S,missense,RYR2
rs9332961,2,-,31529398,CCTCGGTGAGATCATTGAATGGATCGGCTATGCCCTGGCCACTTGGTCCCT,G>A,G>S,missense,SRD5A2
rs17860424,2,+,201276908,CAACAATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTTCACAG,C>T,R>W,missense,CASP8
rs1135401765,12,-,115982386,GCATATGAGAAATTCTTTCATTCTCCAGGTTACTGTTTGCAAGTTTATTAT,C>T,Q>*,stop-gained,MED13L
rs200788251,17,+,7222289,AGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTT,G>A,G>R,missense,ACADVL
rs72552271,1,-,112913980,GGAAGAGACCAGTATAGATGTTGCTGGGAAGCCAAATGAAGTTACCAAAGC,G>A,G>R,missense,SLC16A1
rs749426767,1,-,42929215,TATCGTCAACACGGCCTTCACTGTCGTGTCGGTGAGTCTTTGCTTACTGGC,G>A,V>M,missense,SLC2A1
rs869312664,2,+,165386920,TCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTC,G>A,G>R,missense,SCN2A
rs886043113,2,-,237347812,AACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTG,C>T,R>*,stop-gained,COL6A3
rs193919340,2,+,73490120,TACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTC,C>T,R>*,stop-gained,ALMS1
rs386833743,16,-,28482182,TAACCTCAGGTACCAGATGCTGTACCAGGCTGGCGTCTTTGCCTCCCGCTC,C>T,Q>*,stop-gained,CLN3
rs749083759_1,1,-,152303917,ATCTGCAGTCAGAGACAGTGGACACCGAGGGTCCAGTGGTAGTCAGGCCAG,C>T,R>*,stop-gained,FLG
rs1064794841,1,+,61088191,CATCGAAGCACTTCTGCCCCACGTCCGAGCCTTTGCCTACACATGGTTCAA,C>T,R>*,stop-gained,NFIA
rs121917844,5,-,177994153,GAACCAGTACCCCGACATCTGGGCCCGAGAGAGTCTTGCCCGGGACACTGG,C>T,R>*,stop-gained,PROP1
rs1057517143,11,+,66523496,CAAGTACTGCATCGAGCTGAGCGCCCAGCCTGTGGGACTTATCCGGGTACA,C>T,Q>*,stop-gained,BBS1
rs727504010,5,+,71635241,TAACCTTAAGAGGAGCTTTGATGTCCGAGAGGTATGTGAAAGTGGAACTGT,C>T,R>*,stop-gained,MCCC2
rs80357208,17,-,43091714,GAATAGCTTAAATGACTGCAGTAACCAGGTAATATTGGCAAAGGCATCTCA,C>T,Q>*,stop-gained,BRCA1
rs369721476,16,+,31462346,CGTCCGTGCCCTCCTGGAACTCAGCCGAGGCTGCTCCCGGGCCTGTGCTGA,C>T,R>*,stop-gained,ARMC5
rs879254880,19,+,11113539,CCTTCTCTCCTCCTGCCTCAGCACCCAGCTTGACAGAGCCCACGGCGTCTC,C>T,Q>*,stop-gained,LDLR
rs764232985,7,-,44153381,AGACGGATGCAGAAGGAGATGGACCGCGGCCTGAGGCTGGAGACCCATGAA,G>A,R>H,missense,GCK
rs768671894,13,-,51950328,AAGGTGGTCCCTGGGGGAAAGTTTCCAGTGGATGGGAAAGTCCTGGAAGGC,C>T,P>L,missense,ATP7B
rs201947120,16,+,72023536,CGGGCAGGACGCGCTGGAGAAGATCCGGGCAGGGGCCTCCCTGGTGCAGCT,C>T,R>W,missense,DHODH
rs1131690974,9,-,95477671,TATGCCTGTCTAACCATGCTGCGCTGGGACTGCTCCAAGTCCCAGGGTGCC,G>A,W>*,stop-gained,PTCH1
rs104895301,12,+,109586098,GAGAATGATTCACGGGAACCCCTCCGGAGTGGACAATGCTGTCAGCACCTG,G>A,G>R,missense,MVK
rs112602953,10,-,88943813,GCACCCCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAAGTAAGTATG,G>A,R>Q,missense,ACTA2
rs786205824,5,-,173232978,CAGGTCAAGATCTGGTTCCAGAACCGGCGCTACAAGTGCAAGCGGCAGCGG,G>A,R>Q,missense,NKX2-5
rs75267011,2,+,96761706,TATGCCCGCAAGATTGAGCCCATCCGGCGCAAGGGCAACTACCTTCTCTGC,G>A,R>Q,missense,CNNM4
rs5030819,3,+,10149813,GTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCC,C>T,Q>*,stop-gained,VHL
rs104894070,8,-,142879146,GCAGGCATGGTGTGTGTGATGCTGCCGGAGGACGTGGAGAAGCTGCAACAG,C>T,P>L,missense,CYP11B1
rs869312842,6,-,142771834,CACAGGCCTCTCCCGCAGCCCCAGCCAAGAAAGCAACTTGTCCCACAGCTC,C>T,Q>*,stop-gained,HIVEP2
rs72555370,3,-,33072587,TGTGCCCCGCTTCTACTGGAAGGACCGGCTGCTGAAGATGAAGATGGCTGG,C>T,R>W,missense,GLB1
rs119455952,1,+,170552136,TACGATCATACAGCAAAATGAGCTCCGAAAGGCCAAGAAGTTGGAGGAGTT,C>T,R>*,stop-gained,GORAB
rs371549948,17,-,39684715,TCCCGGTTCCTGTTCTTTCAAGAGCCGGCATCGGCCGTGGCCTCGTTTCTC,C>T,P>L,missense,PGAP3
rs1057524878,21,-,32657766,AGTGAAAAGTGCCGCACCCCTGCCTGGACAGACCGTGTCCTTTGGAGAAGG,G>A,W>*,stop-gained,SYNJ1
rs72659338,7,+,94427654,CCCCCCTGGTCCCCCTGGCCCTCCTGGACCTCCAGGTGTAAGCGGTGGTGG,G>A,G>R,missense,COL1A2
rs863225250_1,3,-,184357240,GACTATTACAGCCCTCTTCAAAACCCGATTCCGGCTCGACTTCCCCTTTGA,C>T,R>*,stop-gained,CLCN2
rs104894901,X,+,152865888,AGCCATCCGCCCTCATGGCATTTTCGGCCCAAGGGACCCGCAGTTGGTACC,G>A,G>S,missense,NSDHL
rs974671846,2,-,178592211,AGGAAAGATTCATGTTACCTTACTTGGAAAGAACCACTGGATGATGGTGGT,G>A,W>*,stop-gained,TTN
rs397514506,10,+,119672399,GGTGATACACGAGCAGAACGTTACCCGGCCAGCAGCCCAGCCCTCCTTCCA,C>T,R>W,missense,BAG3
rs1220351376,4,+,122929145,GAGGCCTGGTGATGCCATCCAGGTCCAGCCTCTTGTGGGTGCTGTGCTACA,C>T,Q>*,stop-gained,SPATA5
rs146733615,1,-,215640723,CTTTCTCCCCACAGTGCCTCAGTACCGAGCCCCATTTTCGGTGGACAGCAA,C>T,R>*,stop-gained,USH2A
rs796053128,2,+,165365177,GCAACTAGTTCATCTGAAGGCAGCACGGTTGATATTGGAGCTCCCGCCGAG,C>T,T>M,missense,SCN2A
rs397516097,14,-,23429089,CACCTTGCAGGTGATATATGCCACTGGGGCACTGGCCAAGGCAGTGTATGA,G>A,G>R,missense,MYH7
rs587778629,9,-,95456341,CCTCATCGGAATCAAGCTCAGTGCCGTGCCCGTGGTCATCCTGATCGCTTC,G>A,V>M,missense,PTCH1
rs1050828,X,-,154536002,CCTTCTGCCCGAAAACACCTTCATCGTGGGCTATGCCCGTTCCCGCCTCAC,G>A,V>M,missense,G6PD
rs121918338,9,-,136370362,CTGGCGGCAGGCGCTGCGGGACCACCAGGAGCAGGCCAACACCATCTTCTC,C>T,Q>*,stop-gained,CARD9
rs1085307939,10,-,77993331,CAAATCTCTTGAAGATCTTTGCTCCCAGTATGATCTGACAGTCCGAAGCTC,C>T,Q>*,stop-gained,POLR3A
rs1064797086,11,+,128810639,AACATGAATTACGACAAGCTGAGCCGGGCCCTCCGTTATTACTATGATAAA,G>A,R>Q,missense,FLI1
rs1170254952,X,+,108597051,GGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACCAGTAAGTTT,G>A,G>S,missense,COL4A5
rs773844428,11,+,77208720,AGGAATTGTGCCCTCACTCACCTACCAGGTGTTCTTCATGAAGAAGCTGTG,C>T,Q>*,stop-gained,MYO7A
rs63751177,17,+,44351438,TGCTGCCGTCTACAGTCGGGGGCCTGGGGCTGCTGCCCTTTTACCCAGGTA,G>A,W>*,stop-gained,GRN
rs777947329,20,-,54159075,TCTCTACAATTTATCCCGTAATCCCCAAGTGCAACAAAAGCTTCTTAAGGA,C>T,Q>*,stop-gained,CYP24A1
rs531425980,1,+,99891336,CTATGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTGAAGTAAG,C>T,R>*,stop-gained,AGL
rs137852835_1,12,-,88130324,AAGAAGAGGGGAAGACAGTGACTACCGATCACAGTTGTCTAAAAAAAACTA,C>T,R>*,stop-gained,CEP290
rs879254011,1,+,12002034,ACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTT,G>A,R>Q,missense,MFN2
rs138358708,17,+,1731098,CCCAGGGAGTGCCTCAGGCCCCAGCCGACTGAACAGCCGTAAGGAGGCGGG,C>T,R>*,stop-gained,WDR81
rs1057520565,16,-,89279404,CCGCGGCTCCGAGGACGACGACGCCCAGGCCCAGCATCCGCGCAAACGCCG,C>T,Q>*,stop-gained,ANKRD11
rs776065839,2,-,178558419,GAGAGAGAATTCTGAATACTTTTTCCGAGTGTTTGCTGAAAATCAAGCTGG,C>T,R>*,stop-gained,TTN
rs397514730,X,-,55009302,TTGGACTGCGGTGGGGCTGCCCCTCCAGGATGTGTCTGTGGCTGCCTGCAA,C>T,Q>*,stop-gained,ALAS2
rs28937569,7,+,76304100,ACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAGTCGCGGGCCCAG,C>T,P>L,missense,HSPB1
rs120074184,11,+,2583453,CCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGAC,G>A,G>S,missense,KCNQ1
rs757011098,14,-,75106541,AGATAATCATGTGGTGGTTCTGACACGAAACAAGGAAGTCTATTCTTGGGG,C>T,R>*,stop-gained,NEK9
rs387907026,20,-,967282,GGCCACTTGTGAGAGCTGCTTCAGCCAGGACTTCTGCATCCGGTGCAAGAG,C>T,Q>*,stop-gained,RSPO4
rs587779554,2,+,189006955,ATCTTAGGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCG,G>A,G>S,missense,COL3A1
rs483352889,18,-,23544346,CATCTTCATTCTGGTGCAGGCCTACCAGGTATACTTCCATATTCTCACAGG,C>T,Q>*,stop-gained,NPC1
rs752907087,4,+,186276317,GGCTCCCGATGCTTTTGTCTGTGGCCGAATCTGCACTCATCATCCCGGTTG,C>T,R>*,stop-gained,F11
rs267607059,1,-,42927118,CTTCGATGAGATCGCTTCCGGCTTCCGGCAGGGGGGAGCCAGCCAAAGTGA,C>T,R>W,missense,SLC2A1
rs777105668,3,-,184354548,TGTGCCTGGGGGCTACGCTGTGGTCGGTGAGTGCCTCAGGTCCCATCGGCC,G>A,G>R,missense,CLCN2
rs192619276,9,+,133455576,TCCCCAGCCTCGGCGGCTCCTGCCCGGGCCCCAGGAAAACTCAGTGCAGTC,G>A,G>R,missense,ADAMTS13
rs61753184,11,+,89178182,ATTTCCCTTCACAGGGGTGGATGACCGGGAGTCGTGGCCTTCCGTCTTTTA,C>T,R>W,missense,TYR
rs760462252,2,+,227307839,CAAACCACAGCAATTCCTTCATGTCCAGAGGGGACAGTGCCACTCTACAGT,C>T,P>L,missense,COL4A3
rs1057516099,20,-,63439624,CCTTGCGGCAACCTTCACCCTCATCGGTGTCTCCTTCTTCGCGCTGCCTGC,G>A,G>S,missense,KCNQ2
rs368906199,4,-,76213464,ACCAGCGTCACGCTGCTGGTGGCCCGGGTCTTCCAGAAGGCTGTAGACCAG,G>A,R>Q,missense,SCARB2
rs72552732,5,+,132392484,GTGATGGTGGGCAAGTTTGGAGTCACGGCTGCCTTTTCCATGGTCTACGTG,C>T,T>M,missense,SLC22A5
rs201049092,2,+,71553110,TGCCATCCAGTTTGAGGTCAGCATCGGGAACTACGGGAACAAGTTCGACAT,G>A,G>R,missense,DYSF
rs281864918,5,-,151851463,ATCAACATGGATGCTGCACCTGCTCGTGTGGGCCTAGGCATCACCACTGTG,G>A,R>H,missense,GLRA1
rs756363951,2,-,151650864,TCAGTATAAATACAAACAAGGCTACCGAAAGCAACTTGGCCACCATGTTGG,C>T,R>*,stop-gained,NEB
rs74315337_2,1,-,171652476,CAGGAAGGCCAATGACCAGAGTGGCCGATGCCAGTATACCTTCAGTGTGGC,C>T,R>*,stop-gained,MYOC
rs80358419_1,13,+,32332739,CCTATTGCATATTTCTTCATGTGACCAAAATATTTCAGAAAAAGACCTATT,C>T,Q>*,stop-gained,BRCA2
rs758786846,12,+,2593260,AGAGATGCCTGTCGGCCCTCGCCCACGACCACTCTCTGAGCTTCACCTTAA,C>T,R>*,stop-gained,CACNA1C
rs749714198,9,-,21971100,CACCCGACCCGTGCACGACGCTGCCCGGGAGGGCTTCCTGGACACGCTGGT,C>T,R>W,missense,CDKN2A
rs121964964,21,-,43066353,GTGGCCAAGTGTGAGTTCTTCAACGCGGGCGGGAGCGTGAAGGACCGCATC,C>T,A>V,missense,CBS
rs147816470,9,-,133352696,GAATCCTGAAACCCGGCAGAAAGGCCAGGTAAGGGACATGGACTCTTCCTA,C>T,Q>*,stop-gained,SURF1
rs374419983,8,-,143939416,CGTGCCGCAGCCCGAGGGCCTGGGCCGAAAGAGAACCAGCTCGGAGGACAA,C>T,R>*,stop-gained,PLEC
rs751604696,11,-,71435466,ATCCTGCTGACCCACCGCTGCCTCCGGGACGAGCACCGCTGCGCCAGCAAG,G>A,R>Q,missense,DHCR7
rs386834039,1,-,46193874,GCCTGTGGCTGTCATTGCAGGGAACCGACCCAATTACCTGTACAGGTAAGC,C>T,R>*,stop-gained,POMGNT1
rs72653172,17,-,50188768,GGCTCCTGGTGCCGAAGGTTCCCCTGGACGAGACGGTTCTCCTGGCGCCAA,G>A,G>R,missense,COL1A1
rs766169193,14,-,77280044,CTCAGGGGTCAATGACACAGATTTCCGAGTCTATCTGCTTGGCAACCCGGT,C>T,R>*,stop-gained,POMT2
rs886040873,16,+,50779889,GGAAGAGCTAAACACTGCACCCGTCCAAGAGAGTCCACCCTTGGCCATGCC,C>T,Q>*,stop-gained,CYLD
rs781168584,1,-,150804061,GCCTTCCAATATGTGCAGAAGAACCGGGGTATTGACTCTGAAGATGCCTAC,G>A,R>Q,missense,CTSK
rs768825050,5,+,83204849,AATCTGTTCTGAAATGACTGCTGACCGAGATCCAGTCTATGATGAGAGTAC,C>T,R>*,stop-gained,XRCC4
rs879253789,17,-,63941922,GCTGTTCCGTGTGATCCGCCTGGCGCGGATTGGGCGTGTCCTGCGGCTGAT,C>T,R>W,missense,SCN4A
rs200001068_2,4,+,88038323,CAGCAACCAGACTGAAGCTGACAACCGAAGTTTCATCTTCTATGAGAACCT,C>T,R>*,stop-gained,PKD2
rs121918569,11,+,36575637,GAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCT,G>A,R>Q,missense,RAG1
rs1369501286,21,-,40044201,CTATGCCAGCCAGTGGACCCTCAACCGACCCCACCCCACCATCTCAGCACA,C>T,R>*,stop-gained,DSCAM
rs749979474,11,+,89284852,AGCCAATGCACCCATTGGACATAACCGGGAATCCTACATGGTTCCTTTTAT,C>T,R>W,missense,TYR
rs886039432,3,+,9445193,AGCAGAGACTAGACGTAGAAAAGCACGACGGAAAGAGCTAGAGATGGAGCA,C>T,R>*,stop-gained,SETD5
rs118204070,8,+,19951791,CAGGTAACAGGAATGTATGAGAGTTGGGTGCCAAAACTTGTGGCCGCCCTG,G>A,W>*,stop-gained,LPL
rs397508718,7,+,117531070,AGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTT,G>A,G>R,missense,CFTR
rs562853291,3,-,120644419,GGGGCCAATGGCTTGGCCAATCCTCGTGATTTCTTGATACCCATTGCCTGG,G>A,R>H,missense,HGD
rs387906822,5,+,38925240,TGTTGCAAATACAAAATTGACAACCCGGAAGAAAAGGCATTGATTGTGGAC,C>T,P>L,missense,OSMR
rs797044925,9,+,137163668,GACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCG,G>A,G>R,missense,GRIN1
rs1060503526,4,+,88038380,AGGGGTTCCACGAATACGGCAACTCCGAGTCAGAAATGGATCCTGCTCTAT,C>T,R>*,stop-gained,PKD2
rs755898320,15,+,93009265,GAACTGCCTGCTGAAAATCGGAGACCGGATAGCCGAGTGCCTTAAAGCCTA,C>T,R>W,missense,CHD2
rs387906891,8,-,102212862,GTTTTTAACAGAAGCCTTGCCAGTTGGCCTCATTGGAATGAATTGCATTTT,G>A,G>S,missense,RRM2B
rs121908112,8,+,74350553,GAGGTTAAGCTCATTCTGTACCATTGGACGCATTCCTTCAGCTCTCAAAAG,G>A,W>*,stop-gained,GDAP1
rs111033343,X,+,83508665,CCGCACACTAACCACCCCAACGCCTGGGGGGCCAGCCCGGCACCGAACCCG,G>A,W>*,stop-gained,POU3F4
rs387907142,6,+,156901502,GGCGCAGTATCTGCCGTCCCAGTCCCAGCAGAGGTACCAGCCGCAGCAGGT,C>T,Q>*,stop-gained,ARID1B
rs886041433,X,-,53250304,TGATGTGGTCCAGAGGCGGCACTACCGAATCGGCCTCAACCTCTTCAACAA,C>T,R>*,stop-gained,IQSEC2
rs121908220,19,-,13235685,CTTTCTCCGCCTCTTCCGAGCTGCCCGGCTCATCAAACTTCTCCGTCAGGG,C>T,R>W,missense,CACNA1A
rs794727534,2,+,71574253,TGGGAGTACGCCTCTCTTTTTGGCTGGAAGTTCCACCTCGAGTACCGCAAG,G>A,W>*,stop-gained,DYSF
rs137852372,X,-,154966077,GATTGGTAGGAAGTACAAAAAAGTCCGATTTATGGCATACACAGATGAAAC,C>T,R>*,stop-gained,F8
rs775141057,12,+,106496115,CCATTTTGTGATTCTGGCATCTGTCCGGACATCATCATGAACCCACACGGC,C>T,P>L,missense,POLR3B
rs876658694,18,+,51059892,GCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCATCCTGG,C>T,Q>*,stop-gained,SMAD4
rs786204845,4,-,118815511,CTCTGGGCCTCCTCCTCCAAATGCCCAGTACCAGCCCCCACCTCTTCCAGG,C>T,Q>*,stop-gained,SEC24D
rs758745099,6,-,158120489,TGCCAGAATCCTGGCAAATCTAGACCGAGAAACTGTGCAAGAAAAATATCA,C>T,R>*,stop-gained,SERAC1
rs398123643,21,+,45989626,GTTCCAGGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAA,G>A,G>R,missense,COL6A1
rs28936371,11,-,17394334,ACAGAGGCAGCTGTTCTGCCTGGCCCGGGCCTTCGTGAGGAAGACCAGCAT,C>T,R>W,missense,ABCC8
rs121913151,19,-,7172363,AATTTCAGGGTATCTAAAAATCCGCCGATCCTACGCTCTGGTGTCACTTTC,C>T,R>*,stop-gained,INSR
rs281865112,10,+,102066708,GTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCA,C>T,Q>*,stop-gained,HPS6
rs866429868,X,+,22096976,ACAGATAATGATTCCACATGAAAACCGAACCAGCGAGGCCATGTACAACAA,C>T,R>*,stop-gained,PHEX
rs121908047,1,-,23798188,CATCCACTTTGCGGGGCTCAAGGCCGTGGGCGAGTCGGTGCAGAAGCCTCT,G>A,V>M,missense,GALE
rs180177210,2,+,240870649,CCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCC,C>T,R>*,stop-gained,AGXT
rs1060502581,2,+,202520195,GGCTTATCTTCACACAGAATTACCACGAGGAGGTAAGATAGTCAATAGATG,C>T,R>*,stop-gained,BMPR2
rs121912725,11,-,116837035,AGACAGCGGCAGAGACTATGTGTCCCAGTTTGAAGGCTCCGCCTTGGGAAA,C>T,Q>*,stop-gained,APOA1
rs919850756,15,-,68211685,AACCCCATCATCAAGAATCTCAAGCCGGAGACGCTGGTGAGGCCACCTCCT,C>T,P>L,missense,CLN6
rs773359656_1,19,-,45352646,TTCTCATCCTCCGTATCTGCAGGCGCGGCTGGAATACCTGCGGGACCAGTT,C>T,R>W,missense,ERCC2
rs80356513,3,+,58136063,TGTCACCTACATCCCCGACAAGACTGGGCGCTATATGATTGGAGTCACCTA,G>A,G>R,missense,FLNB
rs767595964,7,+,21698163,TTTTGTGGATGCGCGTGCATTAGCCCGAAAGTTCATTACGTTGTACACGCT,C>T,R>*,stop-gained,DNAH11
rs796052018_1,13,+,100449297,TGGAAACATGAGCATTCAGTTTCTTGGTACAGTGGTAAGTATGAAATCATT,G>A,W>*,stop-gained,PCCA
rs72556299,X,+,38403655,TCTCTGAAAGGTCTTACCCTCAGCTGGATCGGGGATGGGAACAATATCCTG,G>A,W>*,stop-gained,OTC
rs397517601,2,-,178611611,GGGAGAAAACACATTGCCATTGCTTGGAAGCCTCCAGAGAAAAATGGTGGA,G>A,W>*,stop-gained,TTN
rs28940583,6,-,31860588,GGAGCCACGGAAGGGCCGCCTCATCGTGTGTGGCCATGGGACGCTGGAGCG,G>A,V>M,missense,NEU1
rs80338878,7,-,100640846,CTTCCTACTGGGCTACGTCGCCTTCCGAGGGTCCTGCCAGGCGTGCGGAGA,C>T,R>*,stop-gained,TFR2
rs180177097,16,-,23635519,CAATAACTTACCAGCAAATGAAAACCAAAACTTAAAAGAACAAAATCAAAC,C>T,Q>*,stop-gained,PALB2
rs545986367,21,-,43774690,GTTTAAGGCCGTGTCATTCAAGAGCCAGGTGGTCGCGGGGACAAACTACTT,C>T,Q>*,stop-gained,CSTB
rs572237881,3,-,33072586,GTGCCCCGCTTCTACTGGAAGGACCGGCTGCTGAAGATGAAGATGGCTGGG,G>A,R>Q,missense,GLB1
rs104894611,17,+,56594327,GGCCAGCACTATCTCCACATCCGCCCGGCACCCAGCGACAACCTGCCCCTG,C>T,P>L,missense,NOG
rs727504499,2,-,178632294,CCGAGTTAAATGGTTCAAGAATGACCAGCGCCTACACACCACCAGGTCGGT,C>T,Q>*,stop-gained,TTN
rs398123208,X,-,101403938,GCAGAGCTCATGGTCTCAGAAGGCTGGAAGGATGCAGGTTATGAGTACCTC,G>A,W>*,stop-gained,GLA
rs199473411_1,11,+,2585275,GAAGCAGAGGCAGAAGCACTTCAACCGGCAGATCCCGGCGGCAGCCTCACT,C>T,R>W,missense,KCNQ1
rs201573863,19,+,11120478,TCGCCCAAGTTTACCTGCGCCTGCCCGGACGGCATGCTGCTGGCCAGGGAC,C>T,P>L,missense,LDLR
rs587783189,X,-,25007145,CACTTTCCTCGGAGCGGCAGTGTTCCGACACCCAGCTTTCATCAGCCCGGC,C>T,R>*,stop-gained,ARX
rs761628767,15,+,71813567,CGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCC,G>A,R>Q,missense,NR2E3
rs77804083,5,+,70942389,GTTGGGGACAAATGTTCTGCCATTTGGTCAGAAGACGGTTGCATTTACCCA,G>A,W>*,stop-gained,SMN1
rs199473556,3,-,38630342,TGTCCTCAGTCCCTTCCACCCCATCCGGAGAGCGGCTGTGAAGATTCTGGT,C>T,R>W,missense,SCN5A
rs104894310,11,+,112086921,CTCAGGAACGAGATGGCGGTTCTCTGGAGGCTGAGTGCCGTTTGCGGTGCC,G>A,W>*,stop-gained,SDHD
rs121913388_1,9,-,21971121,CTGCGCCGACCCCGCCACTCTCACCCGACCCGTGCACGACGCTGCCCGGGA,C>T,R>*,stop-gained,CDKN2A
rs397514728,3,+,122261697,GCAGCTGATGACGACTATGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAA,C>T,P>L,missense,CASR
rs769550316,15,+,80173016,CTGGCTGTGCCCTTCTTCTGCAGCACGAGACATTCAGAAGTGGGAGTATGT,C>T,R>*,stop-gained,FAH
rs587777429,19,-,6496032,GGCACGCTGCTCATCAGTAAGATCCGCGAGGAGTTCCCAGACCGCATCATG,G>A,R>H,missense,TUBB4A
rs377510220_1,12,-,55688219,GTCCTCCATAAAGAACTTGATGCTCCGAGATGCCTCCACAGTGGTGAGCTG,C>T,R>*,stop-gained,ITGA7
rs1064795098,3,+,11025794,ATAGGTGTGGCTGGATGCGGCAACCCAGATCTTCTTCTCATACGGGCTGGG,C>T,Q>*,stop-gained,SLC6A1
rs121908007,12,+,56004039,ACACCCAACCCTATCTTCTTCACCCGGAACCATCTGCCTGTACCTAACCTG,G>A,R>Q,missense,SUOX
rs864321626,6,+,137877081,TGTATTATTTTTTTCCTTAGAAATCCGAGCTGTTCCACTTGTTAACAGAGA,C>T,R>*,stop-gained,TNFAIP3
rs113994154,17,+,75522108,TGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCG,C>T,Q>*,stop-gained,TSEN54
rs121964905,4,-,177433250,CCAGAAGCATTTTCCAGAATTCTTTGGGGCTGTTATATGTGCCAATGTGAC,G>A,G>R,missense,AGA
rs121908956,2,+,71564074,TCTGTTCAGCCCCAGAACAGCCTGCCGGACATCGTCATCTGGATGCTGCAG,C>T,P>L,missense,DYSF
rs543267101,6,-,44300612,CTCACGAGTGGTGGCCCAAGGCACCGGAAGCACTACTGACCTGGAAGCTGC,G>A,G>R,missense,AARS2
rs752783461,7,+,66082926,GGGAAGCTGCACACGGGACGGAGCCGGAATGACCAGGTGCTTTAGCCCCTC,G>A,R>Q,missense,ASL
rs797045707,9,-,13221493,TATGAGCTTTGTTTGTAGGTTCACTGGCAACACATGGAAACGATTGAATTG,G>A,W>*,stop-gained,MPDZ
rs1064796738,10,+,92606655,ATCTACTAAACAGATTGATGTTTACCGAAGTGTTGTTTGTCCAATTCTGGA,C>T,R>*,stop-gained,KIF11
rs878853002,17,-,44255272,GCTGCGTCGGGTCATCGGGGACTTCGGGGTCCCCATCTCCATCCTGATCAT,G>A,G>R,missense,SLC4A1
rs863225232,8,+,93782402,TGTATTATTTTGCTGCAGCTTTGTCCAGACACAGAGACAAGGCTAAATGCT,C>T,P>L,missense,TMEM67
rs397516464,1,-,201364365,GCCTCTTCTCCTTAGGAGAGACGTCGGGCAGAGCGGGCCGAGCAGCAGCGC,G>A,R>Q,missense,TNNT2
rs780420901,17,-,8073215,CTGGAGACCTTCATGGACACGTTGCCGGATGTGAAGACCACGTGCATCACG,C>T,P>L,missense,ALOX12B
rs767664526,3,-,49841890,GCGCCCTGAGGTGGAGGAGATGATCCGAGACATGGGTGTGGGACAGTCAGC,C>T,R>*,stop-gained,TRAIP
rs121908959,2,+,71674242,CAAGACTGAGAGCAAAATCCCAGCACGAGTGGTGTTCCAGATCTGGGACAA,C>T,R>*,stop-gained,DYSF
rs118204096,11,+,119091432,CCACAGCGGGGAAACCTCAACACCCGGCTTCGGAAGCTGGACGAGCAGCAG,G>A,R>Q,missense,HMBS
rs104895462,16,+,50710911,TCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACC,C>T,R>W,missense,NOD2
rs121909087,9,-,91757380,CATCCGGAAGACAGAATATGGTTCACGACTGCGAATCCAGGACCTGGACAC,C>T,R>*,stop-gained,ROR2
rs121912880,12,-,47986353,AGAGCCTGGTGGCGTTGGGCCCATCGGTCCCCCTGGAGAAAGAGTTAAGTG,G>A,G>S,missense,COL2A1
rs727503567,2,-,178574811,ATGCGGCAGACTGACAGTACTACCTGGGTTGAGTTAGCAACCACCGTTATA,G>A,W>*,stop-gained,TTN
rs104894689,19,+,46756214,CCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCT,G>A,W>*,stop-gained,FKRP
rs786203485,5,+,132579363,GAGCTCTAAGTGTGCAGAAATTGACCGAGAAATGATCAGTTCTCTTGGGGT,C>T,R>*,stop-gained,RAD50
rs121434450,8,-,22115744,TTCCTAGATGGACTGGGCTGTGTTCCAAGCAGTGAAGGTGGCCGTGGGGAC,C>T,Q>*,stop-gained,HR
rs777509481,2,+,98370042,CCACCTCAAGGTAAAGACCTCAGACCGAGATCTCAATCGCGCTGAAAATGG,C>T,R>*,stop-gained,CNGA3
rs34682185,10,+,43106382,CGCCCTCTGCATCCTGCAGGACACCGTGGTGGCCACGCTGCGTGTCTTCGA,G>A,V>M,missense,RET
rs113371321,18,-,23534477,ATGAAAGGCAGCCGCGTGGAGCGCGCGGAAGAGGCACTTGCCCACATGGGC,C>T,A>V,missense,NPC1
rs119470016,5,+,150374288,TGGGAAGGCAGGGGCTGTAGCCTCCCAGACCAAGGCAGGGAAGCCAGAGGA,C>T,Q>*,stop-gained,TCOF1
rs864309667,11,+,65536319,GGAGTCTGTGTCGGAGGACCCGACCCAGCTGGAGGAAGTGGGTGAGTGGCT,C>T,Q>*,stop-gained,SCYL1
rs766742117,17,+,7224010,TGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACAT,C>T,R>W,missense,ACADVL
rs397514574,2,-,96287959,TGCTTCTTTGCTTAGTCGGCTGGCCGGTTGATGCGAGCGATATTTGAAATT,G>A,R>Q,missense,SNRNP200
rs780839834,10,-,78004844,TGGGATCGGTGATGTCACACCTGGCCAAGGACTGCTGAAGGCCAAGTATGA,C>T,Q>*,stop-gained,POLR3A
rs113422242,15,-,48510065,GTGTAATGCGGGCTTTCATGTTACACGAGATGGGAAGAACTGTGAAGGTAA,C>T,R>*,stop-gained,FBN1
rs762739726,2,+,218889989,TTCTGGGTCTTTAACCACAGGTTTCCGAGAGAGCGCTTTTGCCTACGCCAT,C>T,R>*,stop-gained,WNT10A
rs879254802,19,+,11111585,GAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGA,C>T,Q>*,stop-gained,LDLR
rs121964963,21,-,43066260,AAGCCCGGGGACACGATTATCGAGCCGACATCCGGGAACACCGGTGGGTGC,C>T,P>L,missense,CBS
rs863225060,3,+,179199136,CAACCCTTTTTAAAAGTAATTGAACCAGTAGGCAACCGTGAAGAAAAGATC,C>T,P>L,missense,PIK3CA
rs776005417,6,+,109738415,ATTAAAAGTACTGTGCATCGTGACTGGCTTTTGTATATTATTCATGGGTTC,G>A,W>*,stop-gained,FIG4
rs62636275,1,+,197435170,AGGGTGTCTAAGTACAATAGAAATCGGAGGCATTTATCTCTCTTACTTTGA,G>A,G>R,missense,CRB1
rs794728395,7,-,150948944,TACTGTGACCTACACAAGATCCATCGGGACGACCTGCTGGAGGTGCTGGAC,G>A,R>Q,missense,KCNH2
rs113994069,3,+,184140590,ACCACCCAGAGCTGCACTCATTCCCGGCACAACATCTACCGAGGGCCTGAG,G>A,R>Q,missense,EIF2B5
rs116840809,3,+,197954142,TGCTAAGGCCATTGGACACAGAATCCGAGTGGTGAGTATGGTTTTTAGCAA,C>T,R>*,stop-gained,RPL35A
rs886039915,12,-,6591713,AAGAACCTTAAGGAGGGTGGGCATCGTGTACTCATCTTTTCCCAGGTATCA,G>A,R>H,missense,CHD4
rs727504867,1,-,215650687,CACGTTCCATGTGATCTCTTCTACCCAAGCAGTGGTCAACATCAGTGCCCC,C>T,Q>*,stop-gained,USH2A
rs397515543,11,-,68781784,CTACGCCAAATCTCTACTACACGGCCGATGTTACGACAGGTACCGTCCTTA,C>T,R>*,stop-gained,CPT1A
rs754081635_1,14,-,95113166,TCATCTAGCTCCTAAATGCAGAACCCGAGAGTTGCCTGATGGTACATTTTA,C>T,R>*,stop-gained,DICER1
rs140342925,1,-,45332445,GGCAACGTAGCACGGGTGCTGTGCCGTGTCCGAGCCATTGGTGCTGATCCC,G>A,R>H,missense,MUTYH
rs80338696,15,-,42730632,TGTTGTTCCCTTGCTGGAATATTACCGGGACATCTTCACTCTCCTGCTGCG,C>T,R>W,missense,CDAN1
rs121434432,16,-,1449282,ATACGCCCTGATGGGAGCTGCTGCCCAGCTGGGTATGTCCCAGCTCTTGCC,C>T,Q>*,stop-gained,CLCN7
rs138877187_2,2,-,166045081,TTTTCGCTTCTCCATTGAAGGGAACCGATTGACATATGAAAAGAGGTACTC,C>T,R>*,stop-gained,SCN1A
rs145798311,16,-,88842769,CTCCAGAGAGACCCCGAATTTGGACCGGATGGCTGCAGAAGGGCTGCTTTT,C>T,R>W,missense,GALNS
rs72646831,2,-,178597751,TGTTGTCCATGCTGGAGGGGTGATCCGAATCATTGCCTATGTGTCTGGAAA,C>T,R>*,stop-gained,TTN
rs397517787,2,-,178533666,ATTTGAGTCAGACAAGGGTCTTTACCAATTAACAATCAACAGTGTCACTAC,C>T,Q>*,stop-gained,TTN
rs1064795806,X,-,53234893,GCTGCCTGATGGGCAGTCCAAGCTCCAGGCCCTGCATGCCCAGTATTGCCA,C>T,Q>*,stop-gained,IQSEC2
rs150832314,3,-,58531723,CATGCACGCTTTTATTGTGCCAATCCGGAGTCTTCAGGACCACACCCCACT,C>T,R>W,missense,ACOX2
rs387906933_1,22,+,50698797,AGTGCAGATGAGGCAGCATGACACACGGCCTGGTGAGTGACCCCACGGCTC,C>T,R>W,missense,SHANK3
rs786203821,16,-,23635606,AAATAAAGCTATAAGTAAAAGTGGCCAACTGCCCACAAGTTCTAATTTAGA,C>T,Q>*,stop-gained,PALB2
rs137852753,2,+,202518831,TTTAAAACACTTGCAGCTGATTGGCCGAGGTCGATATGGAGCAGTATATAA,C>T,R>*,stop-gained,BMPR2
rs869320626,1,-,19220834,CTCCTGTGTAGTTGGACTACCTTCTGGAGCAATTCTTTCCCTTCCTAAGGC,G>A,G>R,missense,EMC1
rs118204449,16,-,88835794,CGGCACCACCCCTTTTTCCTCTACTGGGCTGTCGACGCCACGCACGCACCC,G>A,W>*,stop-gained,GALNS
rs727503931_1,X,-,154350912,GGAGTGCTATGTCACAGAAATTGACCAAGGTGAGGCCCTGTCCCTGCCCGG,C>T,Q>*,stop-gained,FLNA
rs267606984_1,9,-,95479122,CGCCCATGCCCTGCAGACCATGTTCCAGTTAATGACTCCCAAGCAAATGTA,C>T,Q>*,stop-gained,PTCH1
rs767004225,10,+,71734271,ATCACAGTCCAGGGCCTGGTGGACCGTGAGAAGGGCGACTTCTATACCTTG,G>A,R>H,missense,CDH23
rs886039323,1,+,181651440,CAACCTAGTCCTGGGAGTGCTTTCCGGGTGAGCCAGATGTTTCTCTCTTCT,G>A,G>R,missense,CACNA1E
rs747900131,5,-,13913847,TTTTGGAAAATTCGAAACTTTTCACCGACGCCTTGCCAAGATAATAGACAT,C>T,R>*,stop-gained,DNAH5
rs121913305,13,+,48453032,TGATCTTATTAAACAATCAAAGGACCGAGAAGGACCAACTGATCACCTTGA,C>T,R>*,stop-gained,RB1
rs1060502306,X,-,120441861,ATTGCAAATAACAATCTCAGCTACTGGGATGCCCCCCTGGGAAGTTCTTAT,G>A,W>*,stop-gained,LAMP2
rs1260821931,2,-,178535729,GGCAAACCAGATCCTGTGATCACCTGGCAGAAAGGACAAGATCTCATTGAC,G>A,W>*,stop-gained,TTN
rs148620369,6,+,5545194,CCTAATCACAGCTGGTGCTCAAGACCGAATCGGCTGGGCTTTTGGCCTAGG,C>T,R>*,stop-gained,FARS2
rs121909152,6,+,136869905,TTGTTTTTAGAATTTGCTGGTGACCGGGGCGGTTGACTGTAGTTTGAGAGG,G>A,G>R,missense,PEX7
rs139318843,3,-,48568101,AGGAGATGTTGGCTTCATGGGTCCCCGGGGCCTCAAGGTAGGAAAGAAACA,C>T,R>W,missense,COL7A1
rs118204003,10,-,80274535,GTGCATAAGAACTTCGACCTCCGGCCGGGCGTCATTGTCAGGTAAAGTGCC,C>T,P>L,missense,MAT1A
rs539819851,2,-,151562637,GGAAGAACCCAATGTTATACGCGTCCGAAACGCCCAGGAGATCTTGAGTGA,C>T,R>*,stop-gained,NEB
rs55868108,2,+,232526603,AGAGAAGGGCTACAACAAGGAGCTCCGGCCCGTGGCACACAAAGAGGAGAG,C>T,R>W,missense,CHRND
rs72653749,16,-,16157722,GTTCCGGGACTTTGGGCTAAGATACCGACCTGAGCTCCCGCTGGCTGTGCA,C>T,R>*,stop-gained,ABCC6
rs752334462,19,+,12893530,GTCTGTGGCCTATGGGCTCCTGGCCCGAGAGCTGGAGCGGGTGGACAGTGG,C>T,R>*,stop-gained,GCDH
rs387907287,12,+,57567515,GCAGACATGAATGAACACAGCTCTCGGAGCCACAGCATCTTCCTCATCAAC,G>A,R>Q,missense,KIF5A
rs72653743,16,-,16163072,CACAGTGGTCCGGGCATTCCGAACCCAGGCCCCCTTTGTGGCTCAGAACAA,C>T,Q>*,stop-gained,ABCC6
rs121907957,15,-,72353129,GAGGACTTTCCCCGCTTTCCTCACCGGGGCTTGCTGTTGGATACATCTCGC,G>A,R>Q,missense,HEXA
rs879253848,6,-,49435605,TGTTTAGACTCCTCGTGAAGTGGCCCAGCAGGCTGTGGATGCGGATGTGCA,C>T,Q>*,stop-gained,MUT
rs45517371,16,+,2086359,GAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACG,G>A,W>*,stop-gained,TSC2
rs367543006,7,+,66082934,GCACACGGGACGGAGCCGGAATGACCAGGTGCTTTAGCCCCTCCACCCCCT,C>T,Q>*,stop-gained,ASL
rs397515750,X,+,154420948,GACGGACTTCATTCAAGAGGAATTCCAGCATCTGAAGACTCAGGCAGAGCA,C>T,Q>*,stop-gained,TAZ
rs864309698,22,+,25229484,CCTCTATGAAAACCCCAACTTCACCGGGAAGAAGATGGAAATCATAGATGA,G>A,G>R,missense,CRYBB2
rs371179032,6,+,73479844,GTTAAAGAAACGACAAGAGGACCTCGGTAAGGACAAAATGTCAGTGCTCAG,G>A,R>Q,missense,MTO1
rs1064793668,2,-,178567728,AAACGTGATTTGCCTGATGGTCGTTGGATGAAAGCTAGCTTTACAAATGTC,G>A,W>*,stop-gained,TTN
rs1057519075,X,+,65739816,CCATGCTGAGAACATGCGACTGGGCCGAGACAAATACAAGACCCTGCGCCA,C>T,R>*,stop-gained,MSN
rs876658556,9,-,21974784,AGCAGCATGGAGCCTTCGGCTGACTGGCTGGCCACGGCCGCGGCCCGGGGT,G>A,W>*,stop-gained,CDKN2A
rs200088377,3,-,57106133,ATAGCCTGTGACCTGTTGTTACAGCCGGACAATCTAGCTTGTAAACCCTGT,C>T,P>L,missense,IL17RD
rs104894688,19,-,48750456,GTGTAAAGAAAACATCGACACCTCCCAGGGCGATGTGACGTTTGCTGGCGA,C>T,Q>*,stop-gained,FUT1
rs1131691416,7,-,44145194,ATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGGTG,G>A,R>Q,missense,GCK
rs768514713,11,-,66863785,CAGGGCCCTTGCGGAGTTCCGCGTCCGAGGTGTGAAGGTGAGAGGCTGCAG,C>T,R>*,stop-gained,PC
rs373044722,6,+,131872926,TCTTTGCTGTTTGCAATTTCAGTGCCGGGAACCAAACCAGCACTTCAAACC,C>T,R>W,missense,ENPP1
rs137852668,11,+,68906103,GGAGAACATCTCTCTGAAAGAGCTCCAGAGCCGAGGCGTGTGTTTGCTGAA,C>T,Q>*,stop-gained,IGHMBP2
rs1392638187,10,+,117267710,AAAAACATTTATGGACTCATAGCTCCGAACTTTGGAGTTGGTTTTGCAATT,C>T,P>L,missense,SLC18A2
rs796053216,12,+,51790401,GTTTTCTTCTTCCCTCCTTTACTTCGGAGGTCAGGACATCTTCATGACCGA,G>A,G>R,missense,SCN8A
rs387906780,5,+,251439,CGGAGCAGAGGCACGGAAGGAGTCACGGGGCGCGCATGCCAGGGAAGACTA,C>T,R>W,missense,SDHA
rs5030850_1,12,-,102852876,GGATTTCTTGGGTGGCCTGGCCTTCCGAGTCTTCCACTGCACACAGTACAT,C>T,R>*,stop-gained,PAH
rs760870713,X,+,22212958,TTCTTTTGGGGAACAGAATATCCTCGGTGAGTAAATGAGTACAGAAACCAG,G>A,R>Q,missense,PHEX
rs150800017_1,11,+,118489816,GCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCT,C>T,R>*,stop-gained,KMT2A
rs398123061,6,-,98875673,GATAGGAGCCAAGTGTAAAAAACTCCGGACCCTGGATCTGTGGAGATGTAA,C>T,R>W,missense,FBXL4
rs756928158,X,+,71223978,CCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCA,G>A,V>M,missense,GJB1
rs121964879,2,+,70936045,CCGAGAACACATGCAGGCGGTCACCCGAAACTACATCACCCACCCCCGTGT,C>T,R>*,stop-gained,ATP6V1B1
rs201502095_1,2,+,44312607,TCAGATTGGTGGACCAGACAGTTCACGGCTGACTTCGCGTTTGGGGAATCA,C>T,R>W,missense,SLC3A1
rs9332967,2,-,31526224,ATGTTTGAGGACTACCCCAAATCTCGGAAAGCCCTTATTCCATTCATCTTT,G>A,R>Q,missense,SRD5A2
rs115352435_1,16,+,46922414,AGAGGAGTCCTTTGAGCAATTCAGCCGAGTGAGTCCACTGTGATGCGTCTG,C>T,R>*,stop-gained,GPT2
rs387907118,16,+,89146003,GCGGGTCACTGCTGTGGTGACCCTCCGAGAAGGACACTCACTGTCCCACAG,C>T,R>*,stop-gained,ACSF3
rs1471414348,2,-,178612851,CATGGAAGGACAGGAATACTCATTCCGAGTTAGAGCTGTGAATAAGGCTGG,C>T,R>*,stop-gained,TTN
rs797045090,1,-,152312743,AAGACATGGATCCCGCCACCAGCTCCAGTCAGCAGACAGCTCCAGACACTC,C>T,Q>*,stop-gained,FLG
rs397507941_0,13,+,32362573,GATCCAAAGCTTATTTCTAGAATTTGGGTTTATAATCACTATAGATGGATC,G>A,W>*,stop-gained,BRCA2
rs398123675,1,-,100214885,TGACCTTACTGAACTGGTTAAGCTCCGAGAAGAATTAAAACCCATTGCATT,C>T,R>*,stop-gained,DBT
rs104894878,X,-,43949840,GGGCATGCGACTCACTGCCACCTACCGGTACATCCTCTCCTGTCACTGCGA,C>T,R>W,missense,NDP
rs794728196,15,-,48495129,GTGGGGAAGCCCGTGCACCCTATGCCAAGTTGGTAAGAGAAACCCATGCTG,C>T,Q>*,stop-gained,FBN1
rs61750130,1,-,94031110,TCTATTCTCCCACAGATCGTGCTCCCGGCTACCTTTGTGTTTTTGGCTCTG,C>T,P>L,missense,ABCA4
rs1135401799,12,-,13608647,TGCCAACTTAGCTGCCTTCATGATCCAAGAGGAATATGTGGACCAGGTTTC,C>T,Q>*,stop-gained,GRIN2B
rs387907057,14,-,67772109,CCCAGCGACACCCCCTGCCAGGCACCAGTGGGTACCGGATGAGACTGAGAG,C>T,Q>*,stop-gained,ZFYVE26
rs267606818,5,-,180619743,GAGAGTGCTCGGCTACGGCGCCTTCGGGAAGGTGGTGGAAGCCTCCGCTTT,G>A,G>R,missense,FLT4
rs1195594601,2,-,240758372,TTCTATGACCGCTTCCCCTGGTTCCGGCTGGTGGGCAGGTGGGCGCCTCCT,G>A,R>Q,missense,KIF1A
rs137853285,13,-,51958538,CACTGTCCTTGTCTTTCAGCTCCTCGGTGGGTGGTACTTCTACGTTCAGGC,G>A,G>S,missense,ATP7B
rs119456964,3,-,132684784,GGATTGTGTTCACAGAACAGCTGACCAGTTTCTGAAGCGTTCCTTAGAAAT,C>T,Q>*,stop-gained,NPHP3
rs137852885,16,+,1361954,CTGGAACGCCTACAGTGGGATCCTCGGGTGAGTGGGGCCGGGGCAGGGATC,G>A,G>S,missense,GNPTG
rs386833821,14,-,22779929,CGTTGCAGGCATTGTTAGACTTGGCCAGGGTAAGAAATAATATTAGTAGCA,C>T,Q>*,stop-gained,SLC7A7
rs769345284,2,-,151537898,TGATCGTCCAGAGCATTTCCACCACCGAGCAGTCACTGACACAGTCAGTGA,C>T,R>*,stop-gained,NEB
rs730881876,16,-,23630430,CATCAAAAAGAGGATTCCCTTTCTTGGAGTAATAGTGCTTATTTATCCTTG,G>A,W>*,stop-gained,PALB2
rs587784469,18,-,55261466,ATGCTCTGGGGAAAGCACTTGCTTCGGTGAGGAAATATTGACTTTGGACTC,G>A,S>S,synonymous-codon,TCF4
rs387907119,16,+,89145312,GATGGCCAGTACTGGATCCGAGGCCGGACCTCAGTGGACATCATCAAGACT,G>A,R>Q,missense,ACSF3
rs1323958195,17,-,80210736,GGACTTCTACGTCTCACCCACCTTCCAGGACCTCCTGAACCGCACCACAGC,C>T,Q>*,stop-gained,SGSH
rs118204442,16,-,88835335,TCCTGCAGGTATGGAGACGCCGTCCGGGAGATTGATGACAGCATTGGGAAG,G>A,R>Q,missense,GALNS
rs121909391,20,-,3228260,CATCATGATCGCCATGATCCCCATCCGGTACAGGCGGGTGGGCAGTGGGCA,C>T,R>C,missense,SLC4A11
rs72558426,X,+,38403736,GGAATGCACCTTCAGGCAGCTACTCCAAAGGTAGGGAAACTTTTTGCCTTG,C>T,P>L,missense,OTC
rs786205860,22,+,37057420,CAGGTCCCACCCAAGCACGTGTACCGCGTGCTGCAGTGCCAGGAGGAGGAG,G>A,R>H,missense,KCTD17
rs118204085,1,-,155293177,ATCATTGTGCTGACCACAACTGGCCGGTGAGGGGGATATTGGGAATGTCCA,G>A,R>H,missense,PKLR
rs774115247_1,2,-,237354922,TTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGT,C>T,R>*,stop-gained,COL6A3
rs1060499751,1,+,153659157,TTGCAGAGAGAGCCAGGTAGAGCTCCGGGAACAAATTGACAACCTAGCCAC,C>T,R>W,missense,SNAPIN
rs374385878,8,-,61503433,GGTATGGCAGGATGCCTCATCTTTCCGGCTGATATTCATCGTGGATGTGTG,C>T,R>W,missense,ASPH
rs121908003,12,+,120727115,ACACCAGATGTTGCTCCAGACATGCCGGGACTTTGCCGAGAAGGAGTTGTT,C>T,R>W,missense,ACADS
rs9332960,2,-,31580885,ACACGGCGCGATGCAGGTTCAGTGCCAGCAGAGCCCAGTGCTGGCAGGCAG,C>T,Q>*,stop-gained,SRD5A2
rs896545456,15,+,48229233,TTCCAGAAGTTTAGGGCCCGAGTTCGGTGGGTCAATAGGCCTGATCTTTGC,G>A,G>S,missense,SLC12A1
rs201348482,15,+,45603107,TGTGTGTTTTTGTTTCAGACAGAACCAAGTTGTATTGTTAGACACACTGGA,C>T,Q>*,stop-gained,BLOC1S6
rs750371878,6,-,104796666,TCAAATGACACAGAATGAAGACCTCCGAGAAAACATGGTATTGTATTTGTG,C>T,R>*,stop-gained,HACE1
rs121908409,5,-,14871434,ACGGCGGGGACTATGGTGAAATTCCCGGCGCTCACGCACTACTGGCCCCTG,C>T,P>L,missense,ANKH
rs201326023,2,-,26458218,GGCTCCTCTCTTCCACTTCCCAGCCGGCCCGACACGGCCTTCGTCTGGTTC,G>A,R>Q,missense,OTOF
rs61754360,11,+,89178486,ATCAATATTTATGACCTCTTTGTCTGGATGCATTATTATGTGTCAATGGAT,G>A,W>*,stop-gained,TYR
rs121907893,11,+,64593548,GCCGTGGCAGGCGTCATGATGAACACGGGCACTCTCCGTAGGTCTCTGACC,C>T,T>M,missense,SLC22A12
rs104894133,9,-,97684977,AGCATTAGAAGAAGCAAAGGAAGTCCGACAGGAAAACCGAGAAAAAATGAA,C>T,R>*,stop-gained,XPA
rs121434516,20,-,36930760,GATTGCTGGACTTTGTCATGATCTCGGTAAGCTGTACAAAGAGACAAAGTT,G>A,G>S,missense,SAMHD1
rs113994160,17,-,8123096,CAAGCCGCTTGTGGAGAAGCGGCGCCGGGACCGCATCAACCGCAGCCTGGA,C>T,R>W,missense,HES7
rs104894281,11,-,119677734,GGGAAGCCTCCCAGTGTGGTATCCTGGGAAACTCGGTTAAAAGGTGAGGCA,G>A,W>*,stop-gained,NECTIN1
rs1057518258,2,-,165992030,CTGTGACCCTAATAAAGTTAACCCTGGAAGCTCAGTTAAGGGAGACTGTGG,G>A,G>R,missense,SCN1A
rs151340624,X,+,50090846,CATGGAGATCGTAGTGGATATTTTCCGAAAGCTGGGACTGCGGCAGTGCCT,C>T,R>*,stop-gained,CLCN5
rs121908764,7,+,117627664,TCACACGTGAAGAAAGATGACATCTGGCCCTCAGGGGGCCAAATGACTGTC,G>A,W>*,stop-gained,CFTR
rs28933376,10,-,70598417,CTGTGGGGGGACTGGTTCACTGCCACGGATGCCTATGTGAAGCTCTTCTTT,C>T,T>M,missense,PRF1
rs746368198,12,+,120738557,GCAAACCCTGGACATGGGCCGCATCGGCATCGCCTCCCAGGCCCTGGGCAT,G>A,G>S,missense,ACADS
rs879255212,19,+,11129561,GGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGCATC,G>A,W>*,stop-gained,LDLR
rs73095427,1,+,228174786,GAAGCACCTCGCGCTATACAGGATCCGGCGGAAGGTCACGGTGGAGCCGCA,C>T,R>W,missense,IBA57
rs797044702,X,-,101401710,TTTTGGATACTACGACATTGATGCCCAGACCTTTGCTGACTGGGGAGTAGA,C>T,Q>*,stop-gained,GLA
rs121913578,1,+,236895470,AGGCTGCGGTACAAGGGCATCCGCCCGGCTCCTGGCTACCCCAGCCAGCCC,C>T,P>L,missense,MTR
rs121909640,8,-,38429898,AGTGGAGTCCTTCCTGGTCCACCCCGGTGACCTGCTGCAGCTTCGCTGTCG,G>A,G>S,missense,FGFR1
rs132630310,X,+,69616375,AGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCC,C>T,Q>*,stop-gained,EDA
rs63751711,3,+,37012099,TCCATCTTTGGAAATGCTGTTAGTCGGTATGTCGATAACCTATATAAAAAA,G>A,R>Q,missense,MLH1
rs61751410,1,-,94113011,TTATCTTTATTTCTGGTCTTGATCTGGTTAAGGAATGCCAACCCACTCTAC,G>A,W>*,stop-gained,ABCA4
rs74315376,1,+,168305136,TGGCTGTGAGCACTATTCGGGTCTCCGAGGACACCGGCAGGCTCCCTACCC,C>T,R>*,stop-gained,TBX19
rs587783847,X,+,150641404,CCGGAGAGTTGCAACTTTTAGGTCCCGAAATCGAATTCCAGTGAGTACTGC,C>T,R>*,stop-gained,MTM1
rs146973734,12,-,7690389,GCTAAGGATTGGAATGACAACCCCCGGAAAAATTTCGGGTTATTCCTGGAG,G>A,R>Q,missense,GDF3
rs111033808,9,+,34649503,CCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATG,G>A,R>Q,missense,GALT
rs4780605,16,-,16203553,GCAGTGGCATGAAGGCTCCAGAGACCGAGCCCTTCCTACGGCAAGAAGGGA,C>T,T>T,synonymous-codon,ABCC6
rs150974575,2,+,219423817,CCAGACCTACTCTGCCCTCAACTTCCGAGGTGAGTGTCTGCTGGCAGGCGG,C>T,R>*,stop-gained,DES
rs80356796,11,-,68793336,GTGGGAGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACAGGTGA,C>T,R>W,missense,CPT1A
rs387906723,X,+,48516082,CTAGTCCTCCGGAAGCGCCTGGCTCGGATCCTCAGTGCCTGTGTCTTGTCA,G>A,R>Q,missense,PORCN
rs587777744,4,-,99553814,AGATGAATCAAAGGCCTATGTGATTGGAGGATTAGTAGATCACAACCATCA,G>A,G>R,missense,TRMT10A
rs1064796899,18,+,23022189,GAAATTGGCTTCCTGCTCAAGACACCGATTCCGCTACATTCCACCCAACAC,C>T,R>*,stop-gained,RBBP8
rs72656330,17,-,50186913,TTCCCTCTCTGTGCAGGGTCCCCCCGGCCCTCCTGGACCTCCTGGTCCCCC,G>A,G>S,missense,COL1A1
rs144337183_0,19,+,41869748,ACAAAGAGATCTGGACAGAATCGCCGGACAGGTAAGGCCTGCGTTTGGGGT,G>A,G>R,missense,RPS19
rs730880215,15,+,67181453,AGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCTCCATTCCCCGCC,G>A,G>R,missense,SMAD3
rs121908327,17,-,78125876,CCCAGCTGCCTCCATAGGCCGCAGCCGAGGTGCCATCATCTCCCAGTACTA,C>T,R>*,stop-gained,TMC6
rs80357318,17,-,43091594,AGACTTGACTGCAAATACAAACACCCAGGATCCTTTCTTGATTGGTTCTTC,C>T,Q>*,stop-gained,BRCA1
rs61750240_1,X,-,154031020,TCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGC,C>T,R>*,stop-gained,MECP2
rs397515631,22,-,39231645,CCGCAACGTGCAGTGCCGCCCCACCCAGGTGCAGCTGCGACCTGTCCAGGT,C>T,Q>*,stop-gained,PDGFB
rs118203542,9,-,132906053,AGGAGGCTTTGACTCTCCCTTTTACCGAGACAGTCTCCCAGGTTCTCAGCG,C>T,R>*,stop-gained,TSC1
rs121434599,3,+,46897936,GGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCAC,C>T,P>L,missense,PTH1R
rs193919334_0,22,-,18913492,GCTGGGCCTGCATCCTGCTGACCACCGGGTGTACTTTGGACAGCTGCTAGG,C>T,Q>*,stop-gained,PRODH
rs72656370,7,+,94406286,TCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATAT,G>A,G>S,missense,COL1A2
rs747916314,1,-,209618044,CCTGCTGCTTCTCTCACCCAGGAGCCGAGCCCATGCAGTGGAGGGCCAGGT,C>T,R>*,stop-gained,LAMB3
rs72645357,17,-,50196163,AAATGATGGTGCTACTGGTGCTGCCGGGCCCCCTGTGAGTGTGGCCTGTAG,G>A,G>R,missense,COL1A1
rs752160950_1,16,-,89767185,TCTCTGCAAGTTTTCTTCCCAGTCACGAGATACTTTGTGCAGCTGCTTATC,C>T,R>*,stop-gained,FANCA
rs770045008,6,-,35503626,AACGTGCTGGGCTTCCGTGGCCCCCGGCGCATGACCGTCATCATTCCTGGC,G>A,R>Q,missense,TULP1
rs796065353,2,-,219213495,ACCAGCACCTTTTTGCAGGATGATCCAGACCAACTTCATTGACATGGAGAA,C>T,Q>*,stop-gained,ABCB6
rs34295337,2,-,127292756,GGTGGCTATTGCAGAGCCAGTGTGCCGACCAACCCATGTGCATGAGTACAA,C>T,R>*,stop-gained,ERCC3
rs180177198,2,+,240869327,TTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGG,G>A,W>*,stop-gained,AGXT
rs387907377,2,-,189565504,TATGACATTTGGCTCCCCAGTCATCGGCTGTGGCTTTATTTCGGGATGGAA,G>A,G>S,missense,SLC40A1
rs1085307896,2,+,189004072,TAACACTGGTGCTCCTGGCAGCCCTGGAGTGTCTGGACCAAAAGGTGATGC,G>A,G>R,missense,COL3A1
rs1057517365,11,+,68048883,CCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGC,G>A,W>*,stop-gained,TCIRG1
rs387907314,2,+,112021555,GATCGCCATAGAAAGTCTTGCAGACCGAGTCTACACAAGTAAAAGTGATGT,C>T,R>*,stop-gained,MERTK
rs119473038,2,+,216447063,GTTGTCGGGCACACCAGCCATGTCCCGGCCCGCAGAGCTCTACACGCAGAT,C>T,R>W,missense,SMARCAL1
rs119103268,1,+,11992689,GCACATGAAAGTGGCTTTTTTTGGCCGGTAAGTCCTTGAGGCACCCACCCT,C>T,R>W,missense,MFN2
rs768849266,1,-,183261260,GACTTTGGGATTGTGGTGGTGCCCCGGGATGCAGCCGACACAGACCGAATC,G>A,R>Q,missense,NMNAT2
rs121908690,1,+,46267540,CACCAGCCGGCGGGTGCTCATCTCCGGAACTCCCATCCAGAATGATCTGCT,G>A,G>R,missense,RAD54L
rs587781698,11,+,108365335,TGTTTTTGTCCTTAGTGATATTGACCAGAGTTTCAACAAAGTAGCTGAACG,C>T,Q>*,stop-gained,ATM
rs121913324,19,+,1207022,CATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCT,C>T,Q>*,stop-gained,STK11
rs397507667,13,+,32337797,GAGTACATTTGAAGTGCCTGAAAACCAGATGACTATCTTAAAGACCACTTC,C>T,Q>*,stop-gained,BRCA2
rs863224007,1,-,241502490,GGGGAACCATGTTGCTGTCACTGTCGGAGGCAGCAATGGACATTTTGAGTT,G>A,G>R,missense,FH
rs72653136,17,-,50190027,CGATGCTGGTCCCCCTGGCCCTGCCGGACCCGCTGGACCCCCTGGCCCCAT,G>A,G>R,missense,COL1A1
rs80356989,17,-,43082539,CATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGC,C>T,Q>*,stop-gained,BRCA1
rs761345398,17,+,63483173,TACAACTTCGACTGGTGGTATCTTCGGTGAGAGGAGGGATAGAAAAGCCTT,G>A,R>Q,missense,ACE
rs61749414,1,-,94062611,GGAGGCTCCAGTTGGAATCTACCTCCAGCAGATGCCCTACCCCTGCTTCGT,C>T,Q>*,stop-gained,ABCA4
rs137852258_1,X,+,139561820,GTACCTTAGAGTTCCACTTGTTGACCGAGCCACATGTCTTCGATCTACAAA,C>T,R>*,stop-gained,F9
rs397515942,11,-,47339670,GGGGACCCTGCTCCCACTGTGATCTGGCAGAAGGCTATCACGCAGGTACTG,G>A,W>*,stop-gained,MYBPC3
rs267606919,19,-,35831056,GACGCAGGAGGAGGTGTCTTATTCCCGAGGTGAGTTAGGACCATGTCAGGA,C>T,R>*,stop-gained,NPHS1
rs121909739,1,-,42929242,GCCTGTGTATGCCACCATTGGCTCCGGTATCGTCAACACGGCCTTCACTGT,G>A,G>S,missense,SLC2A1
rs142761835,15,+,40410699,GATGGAGGAGATATCCCGAGCTTCCGGAGCAGTGGGGCTCAGTTACGGTGC,G>A,G>R,missense,IVD
rs1261081427,1,+,228175139,CCCTGCAGGCGTTCCTGAGGGGGTCCGAGACTTGCCTCCTGGGGTGGCCCT,C>T,R>*,stop-gained,IBA57
rs587783182,X,-,25010268,CATGAGGCTGGACTTGACCGAGGCCCGAGTCCAGGTGAGCTGCACAACAGA,C>T,R>*,stop-gained,ARX
rs376788209,10,-,104230656,CTGTGAAGTTGTGGCTTTTTCTGACCGGAAGCTAAAACCTCTCATCTACGT,C>T,R>W,missense,CFAP43
rs191312027_0,13,-,51950132,AGCCATGCCAGTCACTAAGAAACCCGGAAGCACTGTAATTGCGGGGTCTAT,G>A,G>R,missense,ATP7B
rs1057517485,7,-,92499736,AACCTTACTAGCTGGGGTAATTGCACGAGAGAGTAGAATGAATTTTATAAG,C>T,R>*,stop-gained,PEX1
rs121918312,10,+,119672373,CTCCCGCGGGGGTACATCTCCATTCCGGTGATACACGAGCAGAACGTTACC,C>T,P>L,missense,BAG3
rs752277936,10,+,97601952,CTGCACGGGGCAATGGGAAGATGCCCAGAAACTGCAGCACCGCCTCATTGA,C>T,Q>*,stop-gained,HOGA1
rs120074193,11,+,2572870,GGAGCTGATAACCACCCTGTACATCGGCTTCCTGGGCCTCATCTTCTCCTC,G>A,G>S,missense,KCNQ1
rs775935766,14,+,21324647,GCTCAAAGATGTTGCTTATGGCACCCGACCGTTGTCGTTATGTTTGGAAAC,C>T,R>*,stop-gained,RPGRIP1
rs121917757,11,-,534259,TGTGGGCAAGAGTGCGCTGACCATCCAGCTGATCCAGAACCATTTTGTGGA,C>T,Q>*,stop-gained,HRAS
rs104894053,7,-,155806475,GTGAAACTGCGGGTGACCGAGGGCTGGGACGAAGATGGCCACCACTCAGAG,G>A,W>*,stop-gained,SHH
rs387907100_1,20,+,64027138,GCAGAAGGAGATGATGGAGAAGGCGCGGGAAGCCTATAACCAGGGGGTACG,C>T,R>W,missense,PRPF6
rs371418985,22,-,28695737,GGGTATAACCGTGCTGTGGACTGCTGGAGTTTAGGAGTTATTCTTTTTATC,G>A,W>*,stop-gained,CHEK2
rs104893754,3,-,87262161,TGAATTCAGTCAAACAACAATCTGCCGATTTGAAAATCTGCAGCTCAGCTT,C>T,R>*,stop-gained,POU1F1
rs1064794206,16,-,2097227,TGTACCTCTAGATGAAGACCTGATCCAGCAGGTCCTTGCCGAGGGGGTCAG,C>T,Q>*,stop-gained,PKD1
rs587777334,3,-,49099415,TATCCACAGGGACTGGGATGACCCACGGCTCTTTACACTCACGGCCCTGCG,C>T,R>W,missense,QARS
rs886039044,10,+,119670151,ACAGGTGGCAGCGGCGGCGGCAGCCCAGCCCCCAGCCTCCCACGGACCTGA,C>T,Q>*,stop-gained,BAG3
rs200411226,11,-,47342718,CTGAAGGACGGGGTGGAGCTGACCCGGGAGGAGACCTTCAAATACCGGTTC,G>A,R>Q,missense,MYBPC3
rs61752406,1,-,94055134,GCTGCTGTCTATGGCTTACTCGCTTGGTACCTTGATCAGGTGTTTCCAGGT,G>A,W>*,stop-gained,ABCA4
rs878854664,10,+,86923631,GTTTTGAAGCTAATGTCAGAATGCTGGGCCCACAATCCAGCCTCCAGACTC,G>A,W>*,stop-gained,BMPR1A
rs137852508,X,-,71108336,TTTCTCCCCTGTCAGGACGATGCCCCGAATTCCCACCCTGAAGAACCTAGA,C>T,R>*,stop-gained,IL2RG
rs794728165,15,-,48520716,AATGCAGTGCTGCTGTGATGCCGGCCGATGCTGGTCTCCAGGGGTCACTGT,C>T,R>*,stop-gained,FBN1
rs45517337,16,+,2084540,GGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAG,C>T,Q>*,stop-gained,TSC2
rs201105857,5,-,178222564,CTGCCACAGGCACATCCGCAAGGCCGGAGGGGTCTTTGTTGCAGATGAGAT,G>A,G>R,missense,PHYKPL
rs148529020,11,-,17460613,CTGGCAGGCACTCAGCCATGCCTTCGGGAGGCGCCTGGTCCTCAGCAGCAC,G>A,G>R,missense,ABCC8
rs141094096,19,+,13768642,ACCCGGCCCTACAACCAGGGAGCCCGGCTGACGGCCTTTGAGCTGGTCTAT,G>A,R>Q,missense,MRI1
rs1800028_1,19,+,48703560,CACCTTTGTAGGGGTCCATGTTCGCCGAGGGGACTATGTCCATGTCATGCC,C>T,R>*,stop-gained,FUT2
rs1057520791,3,+,122284611,GCTCACGCTTTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTC,G>A,R>Q,missense,CASR
rs773860345,15,+,92985669,GGAGGGATTTACTGATGCAGAGATCCGAAGGTTGGTGGAGGCTCTGTTCTC,C>T,R>*,stop-gained,CHD2
rs72552255,13,-,51946414,CGGTTTGCTTTCCAGACGTCCATCACGGTGCTGTGCATTGCCTGCCCCTGC,C>T,T>M,missense,ATP7B
rs960468382,1,+,25813962,CTCAACGAGAGCTTCATCAGCACCTGGTCCCTGGTGAAGGAGCTGGAGGAA,G>A,W>*,stop-gained,SELENON
rs864622215,X,+,71224351,GCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGC,G>A,R>Q,missense,GJB1
rs797044994,15,-,84643667,CACATCTTGGGATGGAACACGGAGCCAAGATGGAACACGGAGCCAAGTAGA,C>T,Q>*,stop-gained,WDR73
rs544349961,3,-,183041720,AGCAGGAGAGAAGATTCCTTTGAGCCAGGAAGAAATAACTCTGCAGGGCCA,C>T,Q>*,stop-gained,MCCC1
rs1057520166,20,+,48995830,GGATAAAAGACAGATGGCCAGCTTCCAAGAATCGGTTGGTGAGACCAGCTC,C>T,Q>*,stop-gained,ARFGEF2
rs1057517945,10,+,119669938,AGGCCACCCTGTGTACCCCCAGCTCCGACCAGGCTACATTCCCATTCCTGT,C>T,R>*,stop-gained,BAG3
rs104894591_1,17,+,42543882,GCTGGGCAGCTGGCTAGAGCAGGCCCGAGCAGCGGCAGTCAGTGAGGCCGA,C>T,R>*,stop-gained,NAGLU
rs1251778848,12,-,49039277,GCCAGGGTCCTTCCCTAGCGATGACCGACTCTCCCGGCCACCTCCACCAGC,C>T,R>*,stop-gained,KMT2D
rs869312183,9,-,32541986,TGAGAGTGATACCTTTTCAGACAGCCGATCATCAGACAGAGAGACAAAACA,C>T,R>*,stop-gained,TOPORS
rs121907972,15,-,72353130,TGAGGACTTTCCCCGCTTTCCTCACCGGGGCTTGCTGTTGGATACATCTCG,C>T,R>W,missense,HEXA
rs63751428_1,3,+,36996686,GGGAGGCCTGAAGTTGATTCAGATCCAAGACAATGGCACCGGGATCAGGGT,C>T,Q>*,stop-gained,MLH1
rs80356503,3,+,58138491,CACATATGTGATCTATGTGCGCTTCGGTGGTGTTGATATTCCTAACAGCCC,G>A,G>S,missense,FLNB
rs886039553,11,-,64809689,CTACTTCAAGGATCGGGCCCACATCCAGTCCCTCTTCAGCTTCATCACAGG,C>T,Q>*,stop-gained,MEN1
rs587779437,2,+,188999488,TTTTCAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCC,G>A,G>R,missense,COL3A1
rs864321715,16,+,89933512,AGCCATTCTGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGG,G>A,G>R,missense,TUBB3
rs61816761_1,1,-,152313385,ACAAGGATCGCACCACGAGCAGGCACGAGACAGCTCCAGGCATTCAGCGTC,C>T,R>*,stop-gained,FLG
rs80356864_1,17,-,43106508,ATTTTGCATGCTGAAACTTCTCAACCAGAAGAAAGGGCCTTCACAGTGTCC,C>T,Q>*,stop-gained,BRCA1
rs267606855,4,+,42893495,AGAAGGTGATGAGAATGAGAATGACCAGGATAGCTTGCTGGTGTTAGCAAG,C>T,Q>*,stop-gained,GRXCR1
rs886040159,17,-,43091852,TGAGGATGAAGAGCTTCCCTGCTTCCAACACTTGTTATTTGGTAAAGTAAA,C>T,Q>*,stop-gained,BRCA1
rs1057517688,1,+,39965333,TATTGCCTCTTTGAAACAATGGTCACGGTGAGTGTGGGTACCTCCCTTGGG,C>T,T>M,missense,MFSD2A
rs121434294,1,-,11800251,CGCAGTGGACCTGGTGAAGCACATCCGAAGTGAGTTTGGTGACTACTTTGA,C>T,R>*,stop-gained,MTHFR
rs794726742_0,2,-,166041433,TCCAGGCAGAAATGCCCACCCTGTTGGTATAAATTTTCCAACATATTCTTA,G>A,W>*,stop-gained,SCN1A
rs28933972,14,+,36662968,CGGGAGGCCGCTGCCCAACGCCATCCGGCTTCGCATCGTGGAACTGGCCCA,C>T,R>W,missense,PAX9
rs690016548,5,-,150056331,AGTGCTTTCCCTCAGTGCATCCACCGGGACGTGGCAGCGCGTAACGTGCTG,G>A,R>Q,missense,CSF1R
rs104893732,3,+,190402362,GTGAGCACAAAATGCCGAGGCCTCTGGTGGGAATGCGTCACAAATGCTTTT,G>A,W>*,stop-gained,CLDN16
rs121434430,10,-,17041160,GGCATCTTAGAGAGTATAGGGTATCCGAATCCTTATTCTGAAAATCAGCAT,C>T,P>L,missense,CUBN
rs387907260,7,+,66633410,CTACATCCCCACGGACTCCGAGGGCCGGTACTTCATCGACCGAGATGGCAC,C>T,R>W,missense,KCTD7
rs886039419,11,-,64805186,CCCCCTCGTCCAGGGCACCCAGAGCCAAGGTTCCGCCCTCCAGGACCCTGA,C>T,Q>*,stop-gained,MEN1
rs796052641,20,-,63438644,AAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGT,C>T,P>L,missense,KCNQ2
rs397514484,12,-,114676361,ACAAGCAGCTTTCAACTGCTTCGCCCAGGCTTCTTCTCCAGCCGCCTCCAC,C>T,Q>*,stop-gained,TBX3
rs771578775,1,+,226982996,ATCCATTGGGCAGGTGCACTTGGCCCGAATGAAGGGCGGCCGCGAGGTGGC,C>T,R>*,stop-gained,COQ8A
rs1114167283,X,+,48511426,GTGCTACCTCGTGCTGTTCCTCTGCCGACATTCCTCCCATCGAGGCGTCTT,C>T,R>*,stop-gained,PORCN
rs104893902,5,-,173232888,CCGCCGCCGCCTGCCCGCAGGATCGCGGTGCCAGTGCTGGTGCGCGATGGC,C>T,A>V,missense,NKX2-5
rs964335184,9,-,133518975,CAAGAGGTCAACATTTGTGATGTTCGGCGTCCTGACCATTGCTGTGCGGAT,G>A,G>S,missense,MYMK
rs139842473_1,16,-,28477620,GCCCTCCCAGACCAGTGATGAGCACCGGGAGTTTGCAATGGCGGCCACCTG,C>T,R>W,missense,CLN3
rs772837341,X,-,100408005,CTCGTGGTGGAAAAGAGCCTGGACCGCGAGACGCAGTCGCACTACAGCTTC,G>A,R>H,missense,PCDH19
rs61751281,1,-,68446837,AGGCAGGATCCCCCTCTGGCTCACCGGCAGTCTCCTTCGATGTGGGCCAGG,G>A,G>S,missense,RPE65
rs121913140_0,19,-,7119563,GGCAGGTCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAG,G>A,W>*,stop-gained,INSR
rs121918668,1,+,115033507,AACCATCAACACCACCATCTGTGCTGGATATTGTATGACACGGGTATGTAG,G>A,G>R,missense,TSHB
rs876659480,7,-,5982843,GATGCTGCAGCAGCACACCGTGCTCCAGGGGCAGAGGCTCATAGCGTGAGT,C>T,Q>*,stop-gained,PMS2
rs779326570,12,-,48968025,ATGGACTTTGGAGAGAAGTTCTCTCGGGATTTCTTGGATTCCAGGGAAGCT,G>A,R>Q,missense,WNT10B
rs80358809,13,+,32326563,GCTGAGGTGGATCCTGATATGTCTTGGTCAAGTTCTTTAGCTACACCACCC,G>A,W>*,stop-gained,BRCA2
rs863223434,21,-,43058912,CTGTCAGCCCCGCTGACCGTGCTCCCGACCATCACCTGTGGGCACACCATC,C>T,P>L,missense,CBS
rs121434229,1,-,209801280,CAGATTCCCTGGAAACATGCCACCCGGCATAGCCCTCAACAAGAAGAGGAA,G>A,R>Q,missense,IRF6
rs200440467_1,14,+,31072968,GGAAGTTTTAGATGAGTATTTCAGCCGAGTGGTAAGTCTAATGGCTAAAAA,C>T,R>*,stop-gained,AP4S1
rs796053366,9,+,127673250,CCAAGGCACCGTAGACAAACTCTGCCGAGTGGAGCAGGTAGGACTCTCCTT,C>T,R>*,stop-gained,STXBP1
rs80315385,12,+,2504932,ATTTTTTGTACTTAACTTGGTTCTCGGTGTGCTTAGCGGGTAAGCAGGACC,G>A,G>S,missense,CACNA1C
rs104886240,X,+,108666576,TCAAGATGGTATTCCTGGACCAGCTGGACAGAAGGGTGAACCAGGTGCTGT,G>A,G>R,missense,COL4A5
rs797046139,17,-,41758753,GCTGGTGAAGGCCCACCAGGATGCCCAGCGCCACGTAGCTGCAGGCACACA,C>T,Q>*,stop-gained,JUP
rs886041328,X,-,20161669,AAATTCTCACTCAGTGGTGGTTACTGGAATTCTGTTTCAGACACAGCAAAG,G>A,W>*,stop-gained,RPS6KA3
rs587783227,1,-,197128635,TAAAGAAATCCTTTTGGCTTTTTCACGAGATTTCCTAAGTGGTGAAGGTGA,C>T,R>*,stop-gained,ASPM
rs757700700,17,+,80105872,GGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTG,C>T,R>W,missense,GAA
rs1060503015,22,+,23791780,GGTGGGAAACTACCTCCGTATGTTCCGAGGTTCTCTGTACAAGAGATACCC,C>T,R>*,stop-gained,SMARCB1
rs267607177,19,+,36083099,GGTCGTGTACGTGGAGAATGACATCCAGCACCTGCAGGACATGTCACACTT,C>T,Q>*,stop-gained,WDR62
rs777586604,15,-,43239232,TGTCTGGAATGAGTGCTGGATGGCCCGGAAGGATCTGCCCCCTGCATATGG,C>T,R>W,missense,TGM5
rs886039562,3,-,48595102,CGCCGGGATCCTGGCAGAGGCGCCCCGAGTGCGAGCCCAGCACAGGGAGAG,C>T,R>*,stop-gained,COL7A1
rs863225309,5,+,112819329,GGAAGCTCATGAACCAGGCATGGACCAGGACAAAAATCCAAGTATGTTCTC,C>T,Q>*,stop-gained,APC
rs372691318_1,2,-,206130127,GGGAGCAGATGGAGGTTGTATCACACGACAGGATTTGCCAAAGGATTGTTT,C>T,R>*,stop-gained,NDUFS1
rs61754011,12,-,6057930,GGCGGAGCCCCGGGTGGAGGACTTCGGGAACGCCTGGAAGCTGCACGGGGA,G>A,G>R,missense,VWF
rs606231422,2,+,203870684,ATCTCCAGGCAAAGCCACTGAGGTCCGGGTGACAGTGCTTCGGCAGGCTGA,C>T,R>W,missense,CTLA4
rs606231455,1,-,1535370,CTACCACAATGGCCACCCCAGCCCGCGGCACCTGTGAGCCGCACGGGGACT,C>T,R>W,missense,TMEM240
rs74315489,22,+,25231617,CTGGCCCTGCAGGTGGGTTGGCTACCAGTACCCCGGCTACCGTGGGCTGCA,C>T,Q>*,stop-gained,CRYBB2
rs932525260,12,+,120738860,ATGGCCCTGGCCCTGGAGAGTGCCCGGCTGCTGACCTGGCGCGCTGCCATG,G>A,R>Q,missense,ACADS
rs398123832,X,-,31178721,CAAAAGGTATTTTGCGAAGCATCCCCGAATGGGCTACCTGCCAGTGCAGAC,C>T,R>*,stop-gained,DMD
rs863224146,X,+,19358926,TTTCCCTCCCCATAGTTACCGTACACGAGAAGAAATTCAGGAAGTAAGAAG,C>T,R>*,stop-gained,PDHA1
rs121908652,1,-,22129682,CATTGAGGAGTGCCAGTACCAGTTCCGGAACCGGCGCTGGAACTGCTCCAC,C>T,R>W,missense,WNT4
rs397515905_1,11,-,47342719,GCTGAAGGACGGGGTGGAGCTGACCCGGGAGGAGACCTTCAAATACCGGTT,C>T,R>W,missense,MYBPC3
rs587777653,11,-,74168485,AAAGCCTCCCACTTGTGTACTTGTCCGAGTGAGATGGTGGGGAGAAACATC,C>T,R>*,stop-gained,C2CD3
rs386834182,8,+,93786253,AACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTCTTAGTGGATGCAGTA,G>A,R>Q,missense,TMEM67
rs1057518697,X,-,53210820,AGTGGTTGGAACCTAAATGTGATGCCGGTGTTGGAACAGTCTGTACTGTGC,C>T,P>L,missense,KDM5C
rs63750666,1,+,226895521,TTCGGGCTCATCTTTTACTTCTCCACGGACAACCTGGTGCGGCCGTTCATG,C>T,T>M,missense,PSEN2
rs794729148,10,+,110810449,TTCCCAGAGGGAGAGGGACATGTTCCGGGAAGCAGACAGGTGAGGCCCCAA,C>T,R>W,missense,RBM20
rs28931609,8,-,142915100,GAAGAAGAAGGTGCTGCAGAACGCCCGGGGGAGCCTGACCCTGGACGTCCA,C>T,R>W,missense,CYP11B2
rs587777062,18,+,33738800,GGTAGAGACTAGTATCTGTGAATGCCAGGATGAAAATCATAAGACAATACC,C>T,Q>*,stop-gained,ASXL3
rs781784543,11,-,119026979,AAAGACCTGCTGTACTGACTGGGGCCAGTTCTTCCTTATCCAGGAGAAAGG,C>T,Q>*,stop-gained,SLC37A4
rs189840848_1,14,+,73958149,TTCCTCTCTTTTGACCTCCCCAGACCGAGTGACGGTTCTCTACAGGAGCAA,C>T,R>*,stop-gained,COQ6
rs199801224,22,+,20043392,AGCCAACAGGGATGAATTCTACAGCCGACCCTCCAAGTTAGCTGACTTCTG,C>T,R>*,stop-gained,TANGO2
rs1064795456,X,+,7325371,AGCAAACAACTGGGAAGGAGGTATCCGGGTTCCAGGCATCCTTCGTTGGCC,C>T,R>W,missense,STS
rs80356962,17,-,43047666,ATTGTGGTTGTGCAGCCAGATGCCTGGACAGAGGACAATGGCTTCCATGGT,G>A,W>*,stop-gained,BRCA1
rs367658438_0,2,-,29071260,AAGGCCTCTCCCACGAGGACACACTGGGTGCCTCAAGCAGACAAGAGGCGC,G>A,W>*,stop-gained,C2orf71
rs373463881_1,5,+,148099271,TGAAGAAAAGAAAAAGGCTGAAGCACGAGCTAGAAACAAAAGAGAATCTGG,C>T,R>*,stop-gained,SPINK5
rs121909641,8,-,38419720,ACTGACTCAGCCCTGGAAGAGAGGCCGGCAGTGATGACCTCGCCCCTGTAC,C>T,P>L,missense,FGFR1
rs201286421,1,+,161323636,CAGACACGTTGGTCGTCATTGCCTCCGAGCCCACTTTAGCCCTCAGCTCTG,C>T,R>*,stop-gained,SDHC
rs199476205,4,+,186210589,CTAGAAGGACAGTTGATTCTTCGTCCAAGTAATGGCATCTGGATCAAGTTG,C>T,P>L,missense,CYP4V2
rs775171520,17,-,61793727,ACAATTGTTTTATTTTATTTCAGTTGGTTAGAAGCAAACGCTGAATATCTT,G>A,W>*,stop-gained,BRIP1
rs1060501712,11,+,108317446,GGATTGGATTATGAAAATAAAGACTGGTGTCCTGAACTAGAAGAACTTCAT,G>A,W>*,stop-gained,ATM
rs74315369_1,1,-,17044882,GAACTTTAAAAAATTTCAGGCCTCCCGAGGAGCCCAGACAGCTGCAGCCAC,C>T,R>*,stop-gained,SDHB
rs1064793943,4,+,125318938,TCAGAAAGGTATGTTTGCTATCAACCAGGTCACTGGGCAGCTTACCACAGC,C>T,Q>*,stop-gained,FAT4
rs730880027,2,-,219250479,TATGCCAAGAGGGCGTTTGTGCACTGGTATGTGGGTGAGGGCATGGAGGAG,G>A,W>*,stop-gained,TUBA4A
rs1064795718,18,-,23560391,TGAGGTCACAGCACCATGTAGCTGCCAAGACTGCTCTATTGTCTGTGGCCC,C>T,Q>*,stop-gained,NPC1
rs143344549,1,-,215648657,TGCTTCAACTGTTGCAGCAAAGGACCGACAGCTGAACTGAGAACCCATCCT,C>T,P>L,missense,USH2A
rs104886088_0,X,+,108582920,TGATCCTGGTTACCCTGGTGAACCCGGAAGGGATGGTGAAAAGGTAAGAAT,G>A,G>R,missense,COL4A5
rs137852552_1,X,+,641037,CACAGCCAACCACCTAGACGCCTGCCGAGTGGCACCCTACGTCAACATGGG,C>T,R>*,stop-gained,SHOX
rs111033580_1,11,-,118340447,CCTGGGAAAACGCATCCTGGACCCACGAGGAATATATAGGTGTAATGGGAC,C>T,R>*,stop-gained,CD3D
rs770767998_2,2,-,178629441,GCTGTTTCTTCCCTCTCGAAAAGCACGAGTAATTGGTCTTCTGAGGCCTTT,C>T,R>*,stop-gained,TTN
rs587777660,16,+,31459780,GGCTGCAGCGGGTTCCGCCCCGTCCCAGGCAGGCCCCGGCTCCGCCCCCTC,C>T,Q>*,stop-gained,ARMC5
rs398123383,6,+,129460287,CAAACCTATAGGTTTGTGGAATTTCCGAGAAAAAGAAGGTGACTGCAAAGG,C>T,R>*,stop-gained,LAMA2
rs121918570,11,+,36576227,TGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAA,C>T,R>W,missense,RAG1
rs397508216,7,+,117559558,ATTTCATTCTGTTCTCAGTTTTCCTGGATTATGCCTGGCACCATTAAAGAA,G>A,W>*,stop-gained,CFTR
rs587777198,17,+,5002539,CAAGAGTCGGGGTTCTCTGCGGGTCCGGGAGCACCCCATCCTGGGCCCGTA,C>T,R>W,missense,KIF1C
rs116840750,7,-,41967881,TGGTGGTCAGTCTTCATGCAGCAGCCAACAGTCCCCCATCAGCAACTATTC,C>T,Q>*,stop-gained,GLI3
rs794726869,2,+,197705955,CTTCCTGCCTGAGGCCAAGGTCACCCAGCAGCCGGGCCCATCGGGGGATTC,C>T,Q>*,stop-gained,MARS2
rs191391414,5,-,140679114,CTTTGTCATCAGGTTCCTTTTGCTCGGTATTTGGCAATGAATAAACTGACC,G>A,R>Q,missense,HARS
rs128624221,X,+,153736510,CCGTGTGGAGGGCCCCCTGAAGATCCGAGGTAAGGCTGTCCCCTCCCTATG,C>T,R>*,stop-gained,ABCD1
rs886042260,17,-,50190344,TGAGCCTGGTCCCCCCGGCCCTGCTGGCTTTGCTGGCCCCCCTGTGAGTAC,G>A,G>S,missense,COL1A1
rs761786389,X,-,111410784,GATGCCAGTTTTAATGTATTTAGCCCGAAGTTCCAATTTGATAGGAGCCAC,C>T,P>L,missense,DCX
rs121434618,X,-,40075092,CTGATCCGGGAAGGGCTGCGGGTCCCGGGAAACATCGTCTATTCTAGCTTG,C>T,P>L,missense,BCOR
rs121908368,7,-,138739541,AATCCATACCCGTTTGGGATTGATCCGGTAATAATGTCTTCTTGGGTTAAA,C>T,P>L,missense,ATP6V0A4
rs28934872,16,+,2070571,ACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTG,G>A,R>Q,missense,TSC2
rs397508838,17,-,43094416,CCTAGAGATACTGAAGATGTTCCTTGGATAACACTAAATAGCAGCATTCAG,G>A,W>*,stop-gained,BRCA1
rs1057521814,X,-,101353923,AAATTTCCAGTCCGGTGGTCCCCACCGGAAGTCCTGATGTATAGCAAGTTC,C>T,P>L,missense,BTK
rs387906699,11,+,77174831,GGAGACCATCCGAATCCGCCGAGCTGGCTACCCCATCCGCTACAGCTTCGT,G>A,G>S,missense,MYO7A
rs794726682,3,+,46995558,GGGCCTGGCTTCACCTTTCATGCCTGGCTCTGTCTGCACCCTATGGATACA,G>A,W>*,stop-gained,NBEAL2
rs28942073,5,+,74718804,AATTTGTAACGTTAATAGCTTGCGCCGGGCACAATAGTTGAAGTATGGAAA,C>T,P>L,missense,HEXB
rs371307766,6,+,36291464,CCCGAGGACTCCTACAAGGTCACCACGGGGAAGCTCCATGTGAGCCTCACC,C>T,T>M,missense,PNPLA1
rs752697861,2,-,178534092,CCAAGTGACTTGGTACTTTGGCGTCCGACAGCTGGAGAACAGTGAGAAATA,C>T,R>*,stop-gained,TTN
rs779769525,19,-,12649397,TTATCGACCCACCTGGAAACTGAACCAGACGGAGCCCGTGGCAGGAAACTA,C>T,Q>*,stop-gained,MAN2B1
rs199848801,2,-,26473999,CATCCGGCCCGTGCTCAGCAAGTACCGAGTGGAGGTGCGAGGGCTCTGTGT,C>T,R>*,stop-gained,OTOF
rs769237459,1,-,45332279,AGCCCAGCAGCTGGTGGACCCAGCCCGGCCAGGAGATTTCAACCAAGCAGC,C>T,R>W,missense,MUTYH
rs1057519347,19,-,40692240,CTCATCCCGGTGCTGCTGCGGCACCGGCTGTGTCCCCCACCCGAGGAGACC,G>A,R>Q,missense,COQ8B
rs730881633_1,17,-,61801327,AAAGGCCTGTCCATATTACACAGCCCGAGAACTAATACAAGATGCTGACAT,C>T,R>*,stop-gained,BRIP1
rs121918405,11,+,72195454,CTCCCCCAACTTGGGGCCCTGGATCCAGCAGGTATGCATGGCTTCCTGCAG,C>T,Q>*,stop-gained,FOLR1
rs1195320854,2,-,72559509,CTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGT,C>T,Q>*,stop-gained,EXOC6B
rs137853086,2,-,165770217,CGCAAGTGACAGGATTTCTTTGCACCGAGATCTTGGACCAGACACTCGACC,C>T,R>*,stop-gained,GALNT3
rs886038963,15,-,48508612,TAAATGTATTTGCAAACCTGGATTCCAGCTGGCATCAGATGGACGTTATTG,C>T,Q>*,stop-gained,FBN1
rs74603784,12,-,102912823,GATCTTCTCACTCAAAGAAGAAGTTGGTGCATTGGCCAAAGTATTGCGCTT,G>A,G>S,missense,PAH
rs200373703_2,13,-,36314341,AATCCAGAAAGGTGCTTCTAAACTCCGAGAGCGGATTCAACCAGAAGAAAA,C>T,R>*,stop-gained,SPART
rs754562056,11,+,108304732,ATACTTGATTCATGATATTTTACTCCAAGATACAAATGAATCATGGAGAAA,C>T,Q>*,stop-gained,ATM
rs796052633,20,-,63442416,TTTGACACCTACGCGGATGCACTCTGGTGGGGCCTGGTGAGTTGTGGTCAT,G>A,W>*,stop-gained,KCNQ2
rs201102492,19,+,11116937,AGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAAG,G>A,R>Q,missense,LDLR
rs118203732,9,-,132897520,GCAGACTCAGAGGCTTGATACCTCCCAAAAACGGATTTTGGAACTGGAATC,C>T,Q>*,stop-gained,TSC1
rs557164942,15,+,42401763,GATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCCAGTCTCTTCAC,C>T,R>W,missense,CAPN3
rs776513864_0,16,-,16178920,CCAGAAGCAGCGGCTGAGCCTGGCCCGGGCTGTATACAGAAAGGCAGCTGT,C>T,R>W,missense,ABCC6
rs59914820,1,+,156115000,TCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCA,C>T,R>W,missense,LMNA
rs587783590,X,-,111331036,TCTGTGTCCTTTTGCCCCAGAATGCCGAGTCATGAAGGGAAACCCATCAGC,C>T,R>*,stop-gained,DCX
rs72645323,17,-,50197027,ATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCA,G>A,G>R,missense,COL1A1
rs1057517856,9,+,127672099,GATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCA,C>T,Q>*,stop-gained,STXBP1
rs748118737,1,+,226982735,ATCTTCGAGCGGGTGCGGCAGAGCGCGGACTTCATGCCACTGAAGCAGATG,C>T,A>V,missense,COQ8A
rs1440541889,13,-,23355005,GTTGATGTTATCTATAAGCTTTGGCCGGAGGCGAGCAAAGTCAAGGTGCAC,C>T,P>L,missense,SACS
rs762426409,10,+,93620969,CAGCTACATGTACAATATTGAATCCCGAAGAAGCCAGGTAAAAGGAAGGCA,C>T,R>*,stop-gained,PDE6C
rs587777696,9,+,4585316,ACTCCTCCCGTCTCTCCCCAGGGACCGGTTCAGGACCATGGTCAACGTCCT,C>T,R>W,missense,SLC1A1
rs193922233,15,-,48425410,GAAGGGAGTTACCAGTGTTCATGCCCGAAAGGCTACATTCTGCAAGAGGAT,C>T,P>L,missense,FBN1
rs1064796677,1,+,156136042,GATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGC,C>T,Q>*,stop-gained,LMNA
rs779959657,9,-,35067915,AATAGAGTTGTTCGGAATAACCTTCGTGTACGCCTAGGGGATGTCATCAGG,G>A,R>H,missense,VCP
rs767760877_1,11,+,102047858,CAAGGCGCAGGCGTTCGGCTTTGACCAGACCTTTCAGTCCTATCGGAAGGA,C>T,Q>*,stop-gained,C11orf70
rs1064796419,7,+,94410260,ACCCTAGGGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAA,G>A,G>S,missense,COL1A2
rs879254789,19,+,11111549,GTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGG,C>T,Q>*,stop-gained,LDLR
rs587779696,2,+,188993406,GTCTCCTGGTTCAAATGGTGCCCCTGGACAAAGAGGAGAACCTGGACCTCA,G>A,G>R,missense,COL3A1
rs121918216_2,2,-,219567787,TGCCCTGGTCCTTCCAGGGGTCACCCGAGAGGATGCTGGCGAGGTCACCTT,C>T,R>*,stop-gained,OBSL1
rs121917713,7,-,42040198,CCCCAGGCTGTCAGCCAGGCCGAGCCGAAAACGTACACTGTCCATATCACC,C>T,R>*,stop-gained,GLI3
rs727505350,2,-,178622684,GGCTCGATTTGAGTGTGAACTTTCCCGAGAAAATGCTAAGGTCTGTGACTG,C>T,R>*,stop-gained,TTN
rs121912591,17,+,44006157,GCTTCTCGACTCCCTGGAGGTGACCGCGTCGCTGGCCAAGGCGCTGCGGCC,G>A,A>T,missense,NAGS
rs372753711,12,+,131939188,TTGTTTACAGGGTGTGTCCGCAGCCGGCCAGGTGGTATCCCTGAAGGTGTG,G>A,G>S,missense,PUS1
rs1057520734,8,+,60742555,CATCCACCCCAGTGGCTCACTTAACCAAATGAACACACAAACTATGCATCC,C>T,Q>*,stop-gained,CHD7
rs573510559,1,-,225403394,ATGTTGCTTGTCCACCGAGAAGCTCGTGACGAGTACCACTGTAAGAAGAAA,G>A,R>H,missense,LBR
rs886039705,2,-,166012131,ACATATTTCACCAATGCCTGGTGTTGGCTGGACTTCTTAATTGTTGATGTA,G>A,W>*,stop-gained,SCN1A
rs587781592,22,-,28734571,TACCAGCACGATGCCAAACTCCAGCCAGTCCTCTCACTCCAGCTCTGGGAC,C>T,Q>*,stop-gained,CHEK2
rs752127949_1,19,+,12897776,AGCCCTGGACATCGCCCGCCAGGCCCGAGACATGCTGGGGGGGAATGGGAT,C>T,R>*,stop-gained,GCDH
rs897301304,16,+,28903043,TCCCCTCTGCAGCCTGTCCGAGAACCAGTCCCTGCTGCGGATGCCACCCTG,C>T,Q>*,stop-gained,ATP2A1
rs776936158,3,-,149186649,GGTCGTGTGGTACTTATTCAGCGCCGGAAATGAGGCCGATGTACATGGAAT,G>A,G>R,missense,CP
rs104894258,11,-,64807952,GGGGAGCAGACAGCTGAGGTCACCTGGCACGGCAAGGGCAACGAGGACCGC,G>A,W>*,stop-gained,MEN1
rs771820315,14,-,24259721,CCGTGGAGACCCAGTCAATGTCTCCCGGGTCATCTCTGCCATGGTGAGCAC,C>T,R>W,missense,TGM1
rs63751226,2,+,47410199,TGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGT,C>T,Q>*,stop-gained,MSH2
rs201862538,2,-,27478126,TGTGAAGAACCTGTCATCAGGAACCCGAGTGGTGCTCAAGTCACACTATGG,C>T,R>*,stop-gained,IFT172
rs104894174,10,-,13283694,GGTCAGAATAAAACCCAGGGATTCCGGAAGGTAAGCATTCACATTGCTGCA,G>A,R>Q,missense,PHYH
rs80282562,7,+,117534318,CCGTGTTCTAGATAAAATAAGTATTGGACAACTTGTTAGTCTCCTTTCCAA,G>A,G>R,missense,CFTR
rs886041422,19,+,13073436,CCCCTCTTCAGGGCACTTAAGTTTCCAGGACTGTTTTGTGACTTCCGGGGT,C>T,Q>*,stop-gained,NFIX
rs786205471,11,-,119344900,GTGGAAGGATTTGGTTTCCATGCCTGGTACCAGGCTATGGCCCCTGGGCGC,G>A,W>*,stop-gained,MFRP
rs778127887,3,+,14141613,CACAGTGGACTGGTTTCCTGTTTTCCGAGACCTGGTCAACATTGGCCTGAA,C>T,R>*,stop-gained,TMEM43
rs773087549_1,1,-,45332401,TGATCCCAGCAGCACCCTTGTTTCCCAGCAGCTCTGGTAGGATGTTGGGGT,C>T,Q>*,stop-gained,MUTYH
rs121964988,7,+,107919098,ATAGCTAGAGTCTGTCATGCACATCCGGTAATTATTAACAACATATAGAAT,C>T,P>L,missense,DLD
rs752199191,19,+,38517520,GCCCATGCTATGCAGCTACCTGCCCCGATGGTGGGAGCGCGGGCCCGAGGC,C>T,R>*,stop-gained,RYR1
rs863223655,20,-,10644977,TCGTGTCTGCTCTTCTTTTATAGCCCGAAACAGTAGCTGCCTGCCCAACCC,C>T,R>*,stop-gained,JAG1
rs199422246,X,+,154767020,AGGCAAAGAGTATGTGGGGATTGTCCGGCTGCACAATGCTATTGAAGGGGG,C>T,R>W,missense,DKC1
rs876660678,16,-,23626354,TCCGTAGATGTGAGTGCCATGTTTTGGGAAAGAGCCGGTTGTAAAGAGCCA,G>A,W>*,stop-gained,PALB2
rs397514690,1,-,204162135,CTTCCTCAAGAGAATGCCCTCAATCCGAGAAAGCCTGAAGGAACGAGGTGT,C>T,R>*,stop-gained,REN
rs377384434,1,+,150558142,GGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAA,G>A,W>*,stop-gained,ADAMTSL4
rs113994060,3,+,184140470,GTAACAGCTAAGGAATATGGTGCCCGTGTCTCCAACCTACACATGTACTCA,G>A,R>H,missense,EIF2B5
rs1413274209,1,+,21577544,CGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCC,G>A,G>R,missense,ALPL
rs1057516325,19,-,12665511,GTTATCCACAGTCAAGAATGACATCCAGCACGCCGGTGTGCAGTACATCCT,C>T,Q>*,stop-gained,MAN2B1
rs752596663,1,+,22647535,TGGCAAGTTCACCTGCAAAGTCCCCGGCCTCTACTACTTTGTCTACCACGC,G>A,G>S,missense,C1QC
rs186214592_1,X,-,154358500,CCAGACCGTCAATTATGTGCCCAGCCGAGAAGGGCCCTACAGCATCTCAGT,C>T,R>*,stop-gained,FLNA
rs587779489,2,+,188994577,TAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTT,G>A,G>R,missense,COL3A1
rs1462028977,1,-,179575654,CACGGTGGTGGACGTGGATGAGGTCCGAGGCTCCGGCGAGGAGGGCACCGA,C>T,R>*,stop-gained,NPHS2
rs766567785,3,+,10067267,GAGATGAAGGGGAAGGTGCTCACTCGGTTAAAGCACATTGTAGAATTGCAA,G>A,R>Q,missense,FANCD2
rs398123757,12,-,49040704,AAGGCCCCAGGAGCCACCCCCTGCCCAGGCTTTGGCACCTTCTCCTCCAAG,C>T,Q>*,stop-gained,KMT2D
rs1064795334,6,-,3154909,CCCTCTGGCAGGCCAGAGTGGAGCCGGGAATAACTGGGCCAAGGGCCACTA,G>A,G>R,missense,TUBB2A
rs869320639,12,-,12165232,GGAAGACAAAATTCCTCACATATTTGGATTTACTTTGTTGGGTGACTATGT,G>A,G>R,missense,LRP6
rs727505396,18,-,55234596,GGTTCCGGTTCCACAGCTTCCTGTCCAGTCTGCGACTTCCCCTGACCTGAA,C>T,Q>*,stop-gained,TCF4
rs370261904,10,-,54214028,TCCAGGGACTCCTGAGGATTACCCACGATTTTTCCATATGCATCCTAGGAC,C>T,R>*,stop-gained,PCDH15
rs797045379,X,+,78033812,TTCGTCTTCCATGATTATTGATGCCCAGATCTCAAGTAAGCTAATTTTCTT,C>T,Q>*,stop-gained,ATP7A
rs80338716,7,-,96193102,TGGGAGAGTCACAGCCATCGACTTCCGAGACATCATGGTCACCATCCGCCC,C>T,R>*,stop-gained,SLC25A13
rs878853394,16,-,57964158,TACTTCCACCATATCCCTCCGGGCCCAGGGCGCTGAGATTTCTGAAATGAA,C>T,Q>*,stop-gained,CNGB1
rs863223537,9,-,127825822,GTCCTTCTGCATGCTGGAAGCCAGCCAGGACATGGGCCGCACGCTCGAGTG,C>T,Q>*,stop-gained,ENG
rs779184183,12,+,120994262,CGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCAC,G>A,R>Q,missense,HNF1A
rs370031870_1,17,-,8115623,TCACAGGACACGGGAGCTCCGGGCCCGACAAGAATGCTACCGGTGAGGGTG,C>T,R>*,stop-gained,ALOXE3
rs387907215,17,-,68542796,CCTCTCTTGCAGGATTCTGGACTTCCGACGGGTGCCGCCAACAGTGGGGAG,C>T,R>*,stop-gained,FAM20A
rs61750595_1,12,-,6018443,CATCCAGGACTTTGAGACGCTCCCCCGAGAGGCTCCTGACCTGGTGCTGCA,C>T,R>*,stop-gained,VWF
rs199476085,10,+,86917270,TTCTTTACCACTGAAGAAGCCAGCTGGTTTCGAGAAACAGAAATCTACCAA,G>A,W>*,stop-gained,BMPR1A
rs74315347,1,-,179557227,ATCCAAACTTTTTTCTGCCTAGATCGTGACCAAAGACATGTTTATAATGGA,G>A,V>M,missense,NPHS2
rs281865025,12,-,101780152,AAAATCTTTCCTCTAAAGTCAAACTGGTAAGAACATAGAAAATAGAGCAAT,G>A,L>L,synonymous-codon,GNPTAB
rs193922622,1,+,237808916,TGTTTTCCAGCTCGTATTAACCGTTGGCTTATTAGCTGTTGTTGTATACCT,G>A,G>S,missense,RYR2
rs747749610,14,-,77435348,ATCAGCAGGACAGACTGAGATCTTCCGAAAGCACCCCCGCAAAGCCTCCAT,C>T,R>*,stop-gained,VIPAS39
rs121912845,3,-,48580301,GGACCCAAGGGTGACCGTGGGGAGCCGGTGAGTAGGGCTGGTGTCCTGGGC,C>T,P>L,missense,COL7A1
rs72648326,17,-,50195288,TGGTGCTCCTGGCTTCCCTGGTGCCCGAGGCCCCTCTGGACCCCAGGGCCC,C>T,R>*,stop-gained,COL1A1
rs121908102,2,+,218813095,GAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGAC,C>T,T>M,missense,CYP27A1
rs886037963,3,-,50350001,CCAGGTCCCTGAAGACTTCATCTCCCGAGAGCTGTTTGACACAGTCCAAGT,C>T,R>*,stop-gained,NPRL2
rs60864230,1,+,156130658,GGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTG,G>A,R>Q,missense,LMNA
rs386833567,9,-,6540060,GGCTGTGGATGTGGCCAAGAGACTCCAGGATTATGGTAAGTGGCTTTTGAC,C>T,Q>*,stop-gained,GLDC
rs397515537,6,+,45546910,CACTGAGAGCCGCTTCTCCAACCCACGAATGCACTATCCAGCCACCTTTAC,C>T,R>*,stop-gained,RUNX2
rs794728382,7,-,150950962,GCGCCAGCGCCTCGAGGAGTACTTCCAGCACGCCTGGTCCTACACCAACGG,C>T,Q>*,stop-gained,KCNH2
rs796053138_1,2,+,165377645,TATTATGTATGCAGCTGTTGATTCACGAAATGTAAGTCTAGTTAGAGGGAA,C>T,R>*,stop-gained,SCN2A
rs760171298_0,4,+,6301984,ATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCC,G>A,W>*,stop-gained,WFS1
rs786201090,19,+,1221996,CAAGAGGTTCTCCATCCGGCAGATCCGGCAGCACAGGTGAGCGGCCCCTGG,C>T,R>W,missense,STK11
rs1060501669,11,+,108301719,GCCACAAAGACTGGACATAGTTTCTGGGAGATTTATAAGATGACAACAGAT,G>A,W>*,stop-gained,ATM
rs121908737,20,-,44625601,GAGCGAGACTTCGGGGTCAAGGCCCGGTCCATCCTGTGCTGCATGCGCCAC,G>A,R>Q,missense,ADA
rs281874753,X,+,108696340,GCTGAAAGCAGGAGACTTGAGGACACGAATTAGCCGATGTCAAGTGTGCAT,C>T,R>*,stop-gained,COL4A5
rs387906599,2,-,174877967,TACATTGCCAAGATGACGATAAACCCAATTTATGAGCACGTAGGATACACA,C>T,P>L,missense,CHN1
rs201497300,13,-,51946337,TGTCATGGTGGGCACCGGGGTGGCCGCGCAGAACGGCATCCTCATCAAGGG,G>A,A>T,missense,ATP7B
rs766951273,1,-,8359916,AGACCTGTACTTCATGCCTCTGGCCGGGTCCAAGCTGGCCAAGAAGAGGGA,G>A,G>R,missense,RERE
rs886041844,9,+,137800976,GTCCAAGGGCTCTGACATCAACATCCGAGACAACGTAAGTTCGTCACACCC,C>T,R>*,stop-gained,EHMT1
rs527236157,17,+,21704005,CCGAAGCCGGGATGGCCTCAGCCCCCAGGCCAGGCATGACTTTGACAGACT,C>T,Q>*,stop-gained,KCNJ18
rs748090019,20,+,43605012,TTTTTCTTCTTCAAGGGAAATTAGCCGAGCTGCAGGAAAGGCTGTGCCTGG,C>T,R>*,stop-gained,IFT52
rs368085516_2,15,+,51404533,CAAGGCTGGCAACGCCTTCATTGCCCGAGGAATCCTCTATGTCACAGACAC,C>T,R>*,stop-gained,GLDN
rs61754455,X,-,154032273,GATGACCCCACCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAA,G>A,W>*,stop-gained,MECP2
rs794726897,X,-,100407784,CGATCCAGACGAGGGCACCAACGGCCAGGTGGTCTACTCCTTCTATGGCTA,C>T,Q>*,stop-gained,PCDH19
rs587777567,4,-,176711575,CAGTTTTGCCAATCACACTTCCTGCCGATGCATGTCTAAACTGGATGTTTA,C>T,R>*,stop-gained,VEGFC
rs868423827,11,+,6390839,GTTACATCGCATAGTGCCCCGGCTCCGAGATGTCTTTGGGTGGGGGAACCT,C>T,R>*,stop-gained,SMPD1
rs370324188,8,+,31068276,TTTATAGGCTGGTTTTATTATTTACCGAAATTTAGAGATTTTGGATGATAC,C>T,R>*,stop-gained,WRN
rs797045178,14,+,101985931,GAGACCCGGATCACCGCTCGCCTTCGGGATCAGCTTGGCACAGCCAAGAAT,G>A,R>Q,missense,DYNC1H1
rs797044813,X,+,50090490,CCAAAGACTTGTGGGCTTTGTCCTCCGAAGAGATCTCATTATTTCAATTGG,C>T,R>*,stop-gained,CLCN5
rs876657728,9,+,72805491,AGGTTTTGCAATTATTGCTGGTGCTGGGACTTGGAGTATGGATATGTAAGT,G>A,W>*,stop-gained,TMC1
rs56298569_1,8,+,11755082,TCTTGCAATGCGGAAAGAGGGGATCCAAACCAGAAAACGGAAGCCCAAGAA,C>T,Q>*,stop-gained,GATA4
rs1057516559,8,+,99766796,TAGGTTCCTTGTAGCTTGGAATACTGGGATGAACTCCAGAAGGTTTTTGTT,G>A,W>*,stop-gained,VPS13B
rs121912423_1,1,-,154597125,GACCAACTCCATGGCTTCTGATAACCAGGTAGGGCGTTTTCCTACTCAAAA,C>T,Q>*,stop-gained,ADAR
rs1433428588,1,+,11948065,AGCTCAGTTCTTCAACTACAAGATCCAGGTAAGGGGTTTCCTGGGTGAGGC,C>T,Q>*,stop-gained,PLOD1
rs386833430,4,-,177438749,GCTCGGAATTGCCAGCCAAATTATTGGAGGGTATGCACACATTTAATTTAA,G>A,W>*,stop-gained,AGA
rs1057518028,9,+,340290,CAAAGAGATTTTGGAATTTCCAACACGAGAAGTATATGTCCCTCACACTGT,C>T,R>*,stop-gained,DOCK8
rs137853145_2,19,-,18596918,TCAAGCCAAATACCAGATCCGCTACCGAGTGGAGGACAGTGTGGACTGGAA,C>T,R>*,stop-gained,CRLF1
rs28939681,7,+,76303843,GCAGGACGAGCATGGCTACATCTCCCGGTGCTTCACGCGGAAATACACGTG,C>T,R>W,missense,HSPB1
rs587780104_1,17,-,35103298,CTTGGCCTTGATGATGCAGCTGGCCCGAGAGCTGAAGACCCTGGCCCGGGA,C>T,R>*,stop-gained,RAD51D
rs80338948,13,-,20189155,GACCTACACAAGCAGCATCTTCTTCCGGGTCATCTTCGAAGCCGCCTTCAT,C>T,R>W,missense,GJB2
rs1326635278,6,-,63721486,ACCTGTAGGTTTTCAAGGCTGTATCCGACAAGTTATCATAAATAATCAAGA,C>T,R>*,stop-gained,EYS
rs878853123,11,+,72233471,GACCAATGTGCCCTCATGGTGTGACCGGATTCTGTGGAAATCCTACCCTGA,C>T,R>W,missense,INPPL1
rs886039268,22,+,31876262,GATAGTAACGGACAAAGAGCCCGACCGAGGTTAGAGCCGAGGCGAATGCGG,C>T,R>*,stop-gained,DEPDC5
rs727503911,2,+,71600831,GCTGCTGGCCTCTTTTGAGCTCATCCAGAGAGAGAAGGTGAGGCTGGTCTA,C>T,Q>*,stop-gained,DYSF
rs63750301,14,+,73198052,CTAGATTTAGTGGCTGTTTTGTGTCCGAAAGGTCCACTTCGTATGCTGGTT,C>T,P>L,missense,PSEN1
rs794728849_1,3,-,38613782,CAATGTCTCAGCCTTACGCACCTTCCGAGTCCTCCGGGCCCTGAAAACTAT,C>T,R>*,stop-gained,SCN5A
rs104894122,9,-,91724248,GACATCCACAGCCGGCTCCGAGCCTGGGGCAACCTTTCCAACTACAACAGC,G>A,W>*,stop-gained,ROR2
rs878853171,3,+,4706208,TGCCATTCCCGTGGACCTGGACAGCCAAGTCAACAACCTCTTTCTCAAGTC,C>T,Q>*,stop-gained,ITPR1
rs281874743,X,+,108692925,CAGAGCATCCAGCCATTCATTAGTCGGTAAGGCATTGATTTAGCTGTGACT,G>A,R>Q,missense,COL4A5
rs387907174,14,-,74503252,CTGCCAGGACGGCGAGGCCTGGAGCCAGCAGTGTGCTCTGTGTCCCCCGAG,C>T,Q>*,stop-gained,LTBP2
rs146686141_2,1,-,152310466,ACAAGGATCCCGCCATGAGCAGGCACGAAACAGCTCTAGGCACTCAGCATC,C>T,R>*,stop-gained,FLG
rs398124247_1,9,+,131510287,CTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCC,C>T,R>*,stop-gained,POMT1
rs587780784_1,16,+,68811854,CAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCC,C>T,R>*,stop-gained,CDH1
rs587778833,13,+,48456298,AGAGACACAAGCAACCTCAGCCTTCCAGACCCAGAAGCCATTGAAATCTAC,C>T,Q>*,stop-gained,RB1
rs121434619,X,-,40072420,CAACTCAGCGGGTTACGTGGGTGACCGATTCAAATGTGTCACTACCGAACT,C>T,R>*,stop-gained,BCOR
rs60682848,1,+,156134838,TGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAA,C>T,R>*,stop-gained,LMNA
rs879255235,X,-,64917865,TTGTCATGTCACCAGCAAATTCACCGGAATGCACCTATATGCCCTCTTTGC,G>A,R>Q,missense,ZC4H2
rs387907141,6,+,157181137,GGGCAAGAAGCCCCTGGACCTGTTCCGACTCTACGTCTGCGTCAAAGAGAT,C>T,R>*,stop-gained,ARID1B
rs771004767,9,+,77219998,TAATGCCAAACTTGTGATGAATCGCCGATCTGATTTTGACTTTTCTGCCCC,C>T,R>*,stop-gained,VPS13A
rs137852974,11,-,62691132,AGTTTTTCCTCCACAGGTTAACATCCGAAAAAGAGACAATTCCCGGAAGGA,C>T,R>*,stop-gained,BSCL2
rs148092995,22,-,50626154,CTTCTGGCCAGGTCATATCGCTCCCGGTCAGTCCGCAGGCCCTCTCCTTGG,G>A,G>S,missense,ARSA
rs1057517891,15,-,89333346,GCCCCTCTACGGGGACAACCTGGACCAGCACTTCCGCCTCCTGGCCCAGAA,C>T,Q>*,stop-gained,POLG
rs193922735,17,+,42787483,GTCTTCCCCCCTGAGCCTGAGGAGCCAGAGGCAGACCAGCACCAGCCCTTC,C>T,P>L,missense,WNK4
rs1057516756,1,-,209617924,CACCAGCCGCTCCCTTCGGCTTATCCAGGACAGGGTTGCTGAGGTGAGGCA,C>T,Q>*,stop-gained,LAMB3
rs80338700,16,+,8806398,AGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGTGGGTTTGCTTTTAA,C>T,P>L,missense,PMM2
rs863224997,X,-,32390175,AATGCTATCCTCCCAACAGAAAATCCAATCTGATTTGACAAGTCATGAGAT,C>T,Q>*,stop-gained,DMD
rs386833709,16,-,28489298,TAGCCACAAGAGGACATCGGGAAACCAGAGCCATGTAAGTGACTCTCTACC,C>T,Q>*,stop-gained,CLN3
rs45580035,13,+,32380043,AATTTTATTTCAGATTTACCAGCCACGGGAGCCCCTTCACTTCAGCAAATT,C>T,R>W,missense,BRCA2
rs886038001,17,-,43092932,GAATACATTCAAGGTTTCAAAGCGCCAGTCATTTGCTCCGTTTTCAAATCC,C>T,Q>*,stop-gained,BRCA1
rs137853334,20,+,44419813,CCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGA,C>T,Q>*,stop-gained,HNF4A
rs587782069,17,-,17224041,CAAGGACAGCCTGGCCAGGGGCTTCCAGCGCTGGTACAGCATCATCACCAT,C>T,Q>*,stop-gained,FLCN
rs78347057_1,12,-,101796744,GTTCTAGGTGGTTCTGGAATGGAGCCGAGATCAATACCATGTTTTGTTTGA,C>T,R>*,stop-gained,GNPTAB
rs121907917,11,-,31794079,AACCCATTATCCAGATGTGTTTGCCCGAGAAAGACTAGCAGCCAAAATAGA,C>T,R>*,stop-gained,PAX6
rs398122362,9,-,136371432,GCTCCTGGACATCCTGCAGCGGACCGGCCACAAGGGCTACGTGGCCTTCCT,G>A,G>S,missense,CARD9
rs759213174,9,-,132326782,GATTTTTAGCTCAAAGAGTACTTCACGAATTGCTGGTCTTTCTAAATCTTT,C>T,R>*,stop-gained,SETX
rs104894743,X,-,25012937,CGGGCCTTCCAGAAGACGCACTACCCGGACGTCTTCACCAGGTATGCGCGT,C>T,P>L,missense,ARX
rs774265764,4,+,6301468,GAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTC,G>A,R>H,missense,WFS1
rs137852991,2,+,43873809,AAGTCGTCAGATTTCCAACGACTTCCGAGACCTGCCCACCCTCCTCATCCA,C>T,R>*,stop-gained,ABCG8
rs397515556,5,-,150056332,CAGTGCTTTCCCTCAGTGCATCCACCGGGACGTGGCAGCGCGTAACGTGCT,C>T,R>W,missense,CSF1R
rs61754367,11,+,89178660,GATGAAAACTTCACTATTCCATATTGGGACTGGCGGGATGCAGAAAAGTGT,G>A,W>*,stop-gained,TYR
rs121912976,7,+,75985795,TGTCATCATGGTGGGCCCCGGCACCGGGGTGGCACCCTTCATAGGCTTCAT,G>A,G>R,missense,POR
rs119471021,22,-,26457923,CACCCCGCAGGATCGCCGCTTCCTCCAGGCCGTCAGCCTGATGCATAGCGA,C>T,Q>*,stop-gained,HPS4
rs397515738,X,+,154412184,GCCCCTCATCACCGTGTCCAATCACCAGTCCTGCATGGACGACCCTCATCT,C>T,Q>*,stop-gained,TAZ
rs797045085,7,+,21749750,CACTGTGTTCCTGCTGACAGATGCCCAGGTTCTAGATGAGAGCTTCCTCGT,C>T,Q>*,stop-gained,DNAH11
rs1064794066,1,-,153816516,CTATATGAACCTTGCTTCTCATATCCAGCCAGGGACGGTGAACAGAGTGTC,C>T,Q>*,stop-gained,GATAD2B
rs137852489_1,X,+,134486471,TTTTTTTTTTTTTAACTAGAATGACCAGTCAACAGGGGACATAAAAGTAAT,C>T,Q>*,stop-gained,HPRT1
rs111033565,7,+,142751938,TCCTCACGTGCAGTAATCAACGCCCGCGTGTCCACCATCTCTCTGCCCACC,G>A,R>H,missense,PRSS1
rs121909495,X,+,150503409,CAGCTCCTTTGCTCATGAGCTGGCCCGAGTCACCTCCTCGTACAGCACCTC,C>T,R>*,stop-gained,MAMLD1
rs746405080,20,+,13788614,AAATTTCCCCCTTGCTTTGGATCTTGGTTGTGGAAGAGGTTACATTGCACA,G>A,G>S,missense,NDUFAF5
rs200788163,6,-,78970876,CTTTATTTTTTAGGTTTATTATTTCCGACAAGGACATGAAGCCTATGTCGA,C>T,R>*,stop-gained,PHIP
rs1445802934,16,-,9822363,TTTGGGACAGTGCCTAATGGAAGCACGGAGAGAAACATTCGGAATAACTAT,C>T,T>M,missense,GRIN2A
rs754775337,3,-,14148912,CTTTTCTAACCGTGCTCGGAAAGCCCGACTTGCTGAGCCCCAGCTGCGGGA,C>T,R>*,stop-gained,XPC
rs991227431,11,+,68936293,GATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGA,C>T,R>*,stop-gained,IGHMBP2
rs80358790,13,+,32340011,CAACGAGAATAAATCAAAAATTTGCCAAACGAAAATTATGGCAGGTTGTTA,C>T,Q>*,stop-gained,BRCA2
rs886039677,20,+,58909749,CAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCT,C>T,Q>*,stop-gained,GNAS
rs786204502,7,+,107701942,AAGGAAATAGAGATTCAAGTGGATTGGAACTCTGAGCTTCCAGTCAAAGTG,G>A,W>*,stop-gained,SLC26A4
rs72653131,17,-,50190045,TGATGCTGGTGCTAAAGGCGATGCTGGTCCCCCTGGCCCTGCCGGACCCGC,G>A,G>S,missense,COL1A1
rs779232987,19,-,35126853,CTTCCGGCCCGAGGAAGAGCTGCCCGGTGAGCCCCCTCCCCGTCCTTCTGC,G>A,A>T,missense,LGI4
rs961865375,18,-,46522184,TAAGCGCATCTGGTTGGACTACCCCCGAGGGAAGAGGGGCTTCAGCCGTGG,C>T,R>*,stop-gained,LOXHD1
rs587784147,5,+,177269723,ATCTAATGACTATTTGTGGACTCACCAGGCCCGAGTCTTCCCTTACATGGA,C>T,Q>*,stop-gained,NSD1
rs273585626,16,+,88436601,ACCCACCTGCTGCCGCTCCGTGCCACGGACTTTGAGGTGCTCAGCACCAAG,C>T,T>M,missense,ZNF469
rs199474703,3,-,46860702,AACCCCACACAGGCAGAAGTGCTCCGTGTCCTGGGGAAGCCAAGACAGGAA,G>A,R>H,missense,MYL3
rs267606718_1,15,-,48756289,TTACCGGCAATTTTTAGATGATCACCGAAATAAAATTAATGAGGTGCTTGC,C>T,R>*,stop-gained,CEP152
rs771264491_1,15,-,43618042,ACTGCTGGGACAGGAGCAGACTCCCCGAGATTTCCTGGTGCACCAGGCAGG,C>T,R>*,stop-gained,STRC
rs1064793000,19,+,7462259,CGGCCTCGAAGACCTGCCCCAGCCCCGAGGCCTATTCCGTGGAGGGGACCC,C>T,R>*,stop-gained,ARHGEF18
rs886042478,15,+,42360050,CTTTATGTGGACCCTGAGTTCCCACCGGATGAGACCTCTCTCTTTTATAGC,C>T,P>L,missense,CAPN3
rs547034667,10,+,71807585,CTGCTGGTGCTGCGGGACCTGGACCGGGAGCGAGAAGCCATCTTCTCCTTC,G>A,R>Q,missense,CDH23
rs121434559,15,-,64156802,CGCAGGCAAAGACACCAACGGCTCCCAGTTCTTCATCACGACAGTCAAGAC,C>T,Q>*,stop-gained,PPIB
rs587779479,2,+,189006236,CCCTGGATCAGATGGTCTTCCAGGCCGAGATGGATCTCCTGGTGGCAAGGT,C>T,R>*,stop-gained,COL3A1
rs111033386_0,1,-,216046532,CTTCCCAGTTCTTTGCTGCTCTCCTGGAACCCACCCAAAAAGGCAAATGGT,G>A,W>*,stop-gained,USH2A
rs267606751,16,+,57459583,TTTACAGTTTAACTGGTACACCCGCCGAGCCATGCTGGCTGCCATCTACAA,C>T,R>*,stop-gained,COQ9
rs1126422,3,-,49421551,CCAGACCAAGATACTTGGTAGTGACCGGGTGAAGCTGATGGAGAGTCTAGT,C>T,R>W,missense,AMT
rs121434572,13,+,102861621,GAATCAGCAACATTCAGGACACATCCGAAGGCAGTATGAAGATGAAGGGGG,C>T,R>*,stop-gained,ERCC5
rs1275113273,2,+,73424716,TTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAA,C>T,R>*,stop-gained,ALMS1
rs386833953,19,-,35850398,CTCTGCAAACGTGAACGAGGGCTCCCAGCAGAAACTCTTCACTGTGGAGGC,C>T,Q>*,stop-gained,NPHS1
rs1057518879,1,+,11965571,ACCACCCACCTGCACAACGACCTCTGGGAGGTGTTCAGCAACCCCGAGGTG,G>A,W>*,stop-gained,PLOD1
rs80356893,17,-,43093919,TGAAATGATAAATCAGGGAACTAACCAAACGGAGCAGAATGGTCAAGTGAT,C>T,Q>*,stop-gained,BRCA1
rs770649540_1,10,+,12118846,CAAGAAGCATGACTTTGCCATCATCCGAGTAGAGGAACTCTGCCCCTTCCC,C>T,R>*,stop-gained,DHTKD1
rs371097218_1,15,-,48428361,TGATGGGTTTACCGCCAGCCCCAACCAGGACGAGTGCCTTGGTGAGTACAG,C>T,Q>*,stop-gained,FBN1
rs587780345,7,-,44150004,CTCAGGAGCAGAAGGGAACAATGTCGTGGGGCTTCTGCGAGACGCTATCAA,G>A,V>M,missense,GCK
rs1057520339,5,+,177210761,TTCGAAAAGCAAACAGCCCAAGTTCCGAAGTATAAAGTGCAAACACAAAGA,C>T,R>*,stop-gained,NSD1
rs121908583_2,20,-,50948650,CTTATTCCTACAGCTTCTAAGACCACGAGAGAAAAAGTTGGGACTAGGTAA,C>T,R>*,stop-gained,DPM1
rs587784289,17,+,2674239,GAGCATGTGGTAGAATGCATTTCCTGGGCTCCAGAAAGCTCATATTCCTCC,G>A,W>*,stop-gained,PAFAH1B1
rs121908178,16,-,56502454,TGCGGTTTTTTCCTTCTGTTCAGTCCGGGGCTACCTGCCTGGCACGGCTGA,C>T,R>W,missense,BBS2
rs104894381,12,-,114401830,CACGGAAATGATCATAACCAAGGCTGGAAGGTGAGATGGTTTGTTGTGTAG,G>A,G>R,missense,TBX5
rs137853087,2,-,165749747,CACTGGAGAGCAGATATGGGAGATCCAGAAGGTACCTCAGTGCAATTAATT,C>T,Q>*,stop-gained,GALNT3
rs778181932,15,-,48488431,CCACGGCAAGTGCAGAAACACCATTGGCAGCTTTAAGTGCAGGTGTGACAG,G>A,G>S,missense,FBN1
rs724160001,1,-,2405815,CCGCAGGCGGAGTGTCCCCTCTGCCGGGAGAAGTTCCCTCCCCAGAAGCTC,G>A,R>Q,missense,PEX10
rs137852874,19,+,41422262,AGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGA,G>A,G>S,missense,BCKDHA
rs137852759_1,11,-,94437206,TAAATCTACAAGACAGCAGCCTTCCCGAAATGTCACTACTAAGAATTATTC,C>T,R>*,stop-gained,MRE11
rs775517752,4,+,78432512,AGTAGAGGTGTCCCTGTCAGAAGACCGAGGGCCTCGACTGGCTGCTGGCTC,C>T,R>*,stop-gained,FRAS1
rs191295403,16,+,8811098,TCCCAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCC,C>T,R>*,stop-gained,PMM2
rs119468010,17,-,58272835,GAACCAAATTGCAGTGGATGAGATCCGGGAGCGATTGTTTGAGCAGGTCAT,C>T,R>W,missense,MPO
rs773139494_1,3,+,133775570,AGCCCCGAATCACGCTGTGGTCACACGGAAAGATAAGGAAGCTTGCGTCCA,C>T,R>W,missense,TF
rs875989913,19,+,11110744,CGAGTGCCTGTGCCCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGA,C>T,Q>*,stop-gained,LDLR
rs797044874,2,-,199349027,CCAAATTCACCACAGTACTCCAATCCGAAACCAAGTGCCCGCATTACAGCC,C>T,R>*,stop-gained,SATB2
rs1455470131,2,+,96797521,CGCTCTTCTTCCGGCAGCTGACAACCGAAGCCGGAAGCGGGTGTCTGAGAA,C>T,R>*,stop-gained,CNNM4
rs121434540,16,+,89180272,GGGACCCGGCGTGGATGAGGAGCCCCGGGGCGTCTTCTCTATCGACAAGTT,C>T,R>W,missense,CDH15
rs121912757,17,-,44254616,TTCAAGGTGTCCAACTCCTCAGCCCGGGGCTGGGTCATCCACCCACTGGGC,G>A,R>Q,missense,SLC4A1
rs45517222,16,+,2072879,AGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAG,C>T,R>*,stop-gained,TSC2
rs118204107,11,+,119089747,TGTGCTTCCTCCTGGCTTCACCATCGGAGCCATCTGCAAGTAAGAGTCTTG,G>A,G>R,missense,HMBS
rs145449046_1,7,+,117592541,TCACCGAAAGACAACAGCATCCACACGAAAAGTGTCACTGGCCCCTCAGGC,C>T,R>*,stop-gained,CFTR
rs780020495,17,-,61780893,TCTACCAAAAAATAAGAAACGTTCACGACAGAAAACTGCAGTTCATGTGCT,C>T,R>*,stop-gained,BRIP1
rs886041719,6,-,84737224,TGCCCGCTCAGGCCTCACCCTCAACCGATACAGCACATCTTTGGCAGAGAC,C>T,R>*,stop-gained,TBX18
rs79436363,4,+,39273029,ATGAAAGGGGCTCGCATGCTCATTCGGGTGGCCAACAACATCAGCAAATTT,G>A,R>Q,missense,WDR19
rs886037652,1,-,200644514,TGTTCTTTGCATTTTATTTCAGATTGGAAGAGTAGGAAGATTAGGTCAAAA,G>A,G>R,missense,DDX59
rs45517169,16,+,2062982,GCTGCCGTCCCGCAGGAGCGAGTCCCGAGGCGCCGTGCGCATCAAGGTGCT,C>T,R>*,stop-gained,TSC2
rs527236131,5,+,90810996,ATTCAACACTGCAGAAGTTCTTATCCGAAGAACTGGTGGGTTTACTGGCAA,C>T,R>*,stop-gained,ADGRV1
rs375077588,6,-,152330041,TGAGACGGTGACAGAATGTGAGAGCCGAATGGTGCAGAGTATAGACTTCCA,C>T,R>*,stop-gained,SYNE1
rs767739769,11,-,64755320,TGGCTACATCCAGGCTGTGTTGGACCGAAACCTGGCGGAGAACATCTCTCG,C>T,R>*,stop-gained,PYGM
rs151340627,X,+,50086551,CTGTTTATCCGCACAAACATTGCCTGGTGTCGGAAGCGAAAGACCACCCAG,G>A,W>*,stop-gained,CLCN5
rs968905231,14,-,87984443,CTGACTGCCTATTATGTCGTGACCTGGATTGTGGGCGCCAAGCGTTACCAT,G>A,W>*,stop-gained,GALC
rs121918566,6,-,42698389,CTGGAGAGGAGCGTGCCGGAGACCTGGAAGGCCTTTCTGGAGAGTGTGAAG,G>A,W>*,stop-gained,PRPH2
rs587779865,11,+,108330362,AGAAGAACATGATATGTGGGTATTCCGACTTTGTTCCCTCTGGCTTGAAAA,C>T,R>*,stop-gained,ATM
rs397518474,15,-,28265707,GGCTCCAGTGAGGACGAGGCCATTCCGATGCTGGTAGCCGGGCTTAAAGGA,C>T,P>L,missense,HERC2
rs121908945_1,20,+,32780411,CCTCGTCAACGGGGCCTGCAGCGACCAGTCCTCCGACTCGCCCCCAATCCT,C>T,Q>*,stop-gained,DNMT3B
rs569323391,15,-,89652774,TGGCCGCGTCACTCTGGGCCGTGACCGACACTTTGGCTTCCACGTGGTGCT,C>T,R>*,stop-gained,KIF7
rs754658907,8,+,132948928,CCAGGTGATATTGCGTCTTGGAGACCAGGAGTTCATCAAGAGTAAGTCTTT,C>T,Q>*,stop-gained,TG
rs768933093,12,-,76348214,GCCCACTGGCGAGGTGCTTCTCAGCCGGAATGGAGGCCGCCTCCTGGAGGC,C>T,R>W,missense,BBS10
rs869312065,2,-,178548943,ACAAGCAGGTGAAGAATACAAATTCCGAGTTAGTGCTATCAATGGTGCTGG,C>T,R>*,stop-gained,TTN
rs886039269,22,+,31879713,TGCAAGTAGGCACAGCTCCTTTAGCCGAAGTTTTGGAGGACGGAGCCAGGC,C>T,R>*,stop-gained,DEPDC5
rs104894270,11,+,47582436,TTATGGCTTCGAGGGACATCCTTTCCGGAAAGACTTTCCTCTATCTGGCTA,C>T,R>W,missense,NDUFS3
rs200620134,3,+,122284869,CAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGAT,C>T,T>M,missense,CASR
rs759251812,1,+,156592114,GGTTTTCCTCAGCCAGGAGGAGGCCCAGGCCGTGGACCAGGAGCTATTTAA,C>T,Q>*,stop-gained,NAXE
rs863223435,21,-,43068572,CTTGCCAGATATTCTGAAGAAAATCGGGGACACCCCTATGGTCAGAATCAA,G>A,G>R,missense,CBS
rs398123948,X,-,32411868,GCTTGAACAGAGCATCCAGTCTGCCCAGGAGACTGAAAAATCCTTACACTT,C>T,Q>*,stop-gained,DMD
rs1437184398,16,+,46884785,GACCCCCAGCTCCTGGGGCCGCAGCCAGAGCAGCGCGGCCGCCGAGGCCTC,C>T,Q>*,stop-gained,GPT2
rs886041105,19,-,8586611,CTTTCAACTGCGACAGGGGCCAGACCAGGTCCAGAGCCTCGAAGCCCTGGG,C>T,Q>*,stop-gained,ADAMTS10
rs748312802,3,-,38560260,AGACTTGCCTTTGAACTACACCATCGTGAACAACAAGAGCCAGTGTGAGTC,G>A,V>M,missense,SCN5A
rs1064796669,10,-,129867246,GTAGCTGATAACTCCCCATGCCATCCGAGTCCAGACCCCGCCGAGGCACAT,C>T,R>*,stop-gained,EBF3
rs587783489,16,-,3740487,CCGAGTGAACAAATTTTTGCGGCGCCAGAATCACCCTGAAGCCGGGGAGGT,C>T,Q>*,stop-gained,CREBBP
rs1064793293,X,+,48689434,GAGAAGCAGAGCCATCCACTCCTCCGGTGAGCTGATCCTGCCGGGGCCTCA,G>A,D>N,missense,WAS
rs587776965,11,-,123074702,GAAGAAGAGAGACCTAATGAAATTCGGTAAACCTCCCACATCCCTACTTTT,G>A,R>Q,missense,CLMP
rs74315349_1,1,-,26913841,GAGCTCCAGCCTCAAGGCTGTCCCCCGACCCCGTAGCCGCTGCCTATGTAG,C>T,R>*,stop-gained,NR0B2
rs587777138,8,+,67158540,AAGACGGCTTGCAGAACAGAGGGCACGAATTCAGCAGGAGTATGAAGAGGA,C>T,R>*,stop-gained,CSPP1
rs727503863,8,+,60822121,GAATACCAGTTGGAGGGAGTAAACTGGCTACTTTTCAATTGGTACAACATG,G>A,W>*,stop-gained,CHD7
rs1368733883_0,4,+,155730112,ACCAAACTTCCCTAGTGAAATCCCCGGAATCTGCCATTTTCTGGATGCTTA,G>A,G>R,missense,GUCY1A3
rs797045394,X,+,78043434,TCTGGTTGGAATTCCCATAGCTGCTGGTATGTGACTCTTAACTAGTACTGC,G>A,G>R,missense,ATP7A
rs587777672_1,2,+,219484160,AGCCTCCAAGCCTGCACCACCCCCCCAGGCCCTGCAAACCCTAGCGCTGCC,C>T,Q>*,stop-gained,SPEG
rs397514492,5,-,131162604,GGTGATACCCAAGAAACATATATCCCAGATTTCTGTGGCAGAAGATGATGA,C>T,Q>*,stop-gained,HINT1
rs869025494,9,-,136517851,GTGTCTGCAGGGCTACACGGGCCCCCGATGCGAGATCGACGTCAACGAGTG,C>T,R>*,stop-gained,NOTCH1
rs137852847,3,-,4362223,TGTTACAGGTATCGCTGTGCTGCTCGGAGCCAGAACACACCTGATAGCTCT,G>A,R>Q,missense,SUMF1
rs121964926,13,+,113118698,GAGCTCATGGTCCTCAACGTGCCCCGGCTGATGACCCAGGACTGCCTGCAG,G>A,R>Q,missense,F7
rs137853150,11,+,68047480,CCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCAT,G>A,G>R,missense,TCIRG1
rs794726932,X,+,74421963,TGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATC,G>A,W>*,stop-gained,SLC16A2
rs769215629_1,5,+,90724960,AAGAAAATCATCTGTTACTGTTTACCGATGGCAGGGGATTTTTATTCCAGT,C>T,R>*,stop-gained,ADGRV1
rs1064796702,20,-,10652491,TGGCAGTGCCTCTGTGAGACCAACTGGGGCGGCCAGCTCTGTGACAAAGGT,G>A,W>*,stop-gained,JAG1
rs771937610,9,+,130494984,AAGGGCCAGGTGTACATCCTCGGCCGGGAGTCCCCACTGTCTCTCTACAAT,G>A,R>Q,missense,ASS1
rs121918236,9,+,137233722,ACTGGTGCGGCACCACGGGGCAGCCGGTGAGGCACCCAACCCTAGGCCCTC,G>A,P>P,synonymous-codon,SLC34A3
rs28940291,1,+,11992660,AGAGGCATCAGTGAGGTGCTGGCTCGGAGGCACATGAAAGTGGCTTTTTTT,G>A,R>Q,missense,MFN2
rs188119157,18,-,46563166,TGTGGGTGGCGCAGGCACCAGTGCCCGAGTCTACATGCAGATCTATGGAGA,C>T,R>*,stop-gained,LOXHD1
rs119462985_1,9,+,131518945,CACGGTGTGGAACGTGGAGGAGCACCGATACGGCGCGAGTGAGTCCGCGGC,C>T,R>*,stop-gained,POMT1
rs878853036,11,-,65540034,GCCCGGGCCCTCCGGCCGCGATTGCCAGCTCCCCGAGAGCCCGGCCGGTGA,C>T,Q>*,stop-gained,LTBP3
rs121918223,20,+,18543095,GGAGGCTGCGGCAGTGTTGATGGCACGGCTTGGGGTGTTCCGAGCGGAGTC,C>T,R>W,missense,SEC23B
rs928945364,2,-,151617381,AGAAATCATGTTAGCCAAACTCAACCGAATAAACTACAGTGATGTAAGTAA,C>T,R>*,stop-gained,NEB
rs764575966,1,+,161356832,CATGTATCATACCTGGAATGGGATCCGACACTTGGTAAGTTAATTCGGGAT,C>T,R>*,stop-gained,SDHC
rs923052172,12,+,112477974,GCGGATGGTGTTCCAAGAAAACTCCCGAGTGATTGTCATGACAACGAAAGA,C>T,R>*,stop-gained,PTPN11
rs775607037_1,9,+,128332171,TTGTCAGAGGGTCTCCCCAGACACCCGAGCACCCACCCGCTTCGTGGATGA,C>T,R>*,stop-gained,COQ4
rs397516874,13,-,20189212,TAAGGACATCGAGGAGATCAAAACCCAGAAGGTCCGCATCGAAGGCTCCCT,C>T,Q>*,stop-gained,GJB2
rs104894701,19,+,920542,CTACGCCTTCCTGGGCTCGCACTTCCGACAGGCCTTCCGCCGCGTCTGCCC,C>T,R>*,stop-gained,KISS1R
rs1057518760,2,-,240788182,GCAGAAGCAGGTGTACCGGGACATCGGCGAGGAGATGCTGCAGCATGCCTT,G>A,G>S,missense,KIF1A
rs1018084204,8,-,27463317,GGGGGCCCTTCTGGGCTGTGTGCCCCGGTGGCTTCTGATGAACCGGCCCCC,C>T,R>W,missense,CHRNA2
rs28934907,X,-,154032268,CCCCACCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAATCTGG,C>T,R>W,missense,MECP2
rs67486158,X,+,38367361,CCTTCTCACTCTAAAAAACTTTACCGGAGAAGAAATTAAATATATGCTATG,G>A,G>R,missense,OTC
rs281864784,17,+,68525886,AAATGTGAAATTGTGGGGCATCGACCGAGACAGCTATAGAAGAATCCTCAT,C>T,R>*,stop-gained,PRKAR1A
rs879255593,3,+,193662936,CACAGTCCGGAAGAACCTTGAATCCCGAGGAGTAGAAGTAGATCCAAGCTT,C>T,R>*,stop-gained,OPA1
rs62642576,1,-,94011319,TGTCTTCCCCCACTTCTGCCTGGGCCGGGGCCTCATTGACCTTGCACTGAG,C>T,R>W,missense,ABCA4
rs554945964,6,-,42721910,CTCAAGAACGGCATGAAGTACTACCGGGACACAGACACCCCTGGCAGGTGT,G>A,R>Q,missense,PRPH2
rs1064794003,8,+,93780891,GTTTATAGGAGACAGAATCTTCCTTGGCTGTTTTATGGAGACCAGTTAGGA,G>A,W>*,stop-gained,TMEM67
rs121918370,18,-,46572125,GGATAAGGATGATGGGCAGCTGGTCCGAGAGTTGCTACCCAGTGACAGCAG,C>T,R>*,stop-gained,LOXHD1
rs769733603,5,+,177204141,CTAGTTTCCAACCGGAGGCCCTATCGGCAGTACTACGTGGAGGCTTTTGGA,G>A,R>Q,missense,NSD1
rs1057520720,17,-,44867860,CAAAAAGGCCCCAACTAGCAGCTCCCAGAGAAGTTTCGTGGAGTTTATCTT,C>T,Q>*,stop-gained,EFTUD2
rs375346212_1,5,-,141955337,CAACCAGGGAGCACCGGCGGAGAGCCGAGAGGTGCTGCAAGACACGGTCAA,C>T,R>*,stop-gained,PCDH12
rs797045969,11,-,792722,AGCAGCCTCTTTGTCCCCAGCCGCCCAGAGGAAGATCCTGGCTGCCCAGGG,C>T,Q>*,stop-gained,SLC25A22
rs398123929,X,-,32468509,GCTAGAGGAGCAAATGAATAAACTCCGAAAAATTCAGGTAATTCAAGATTT,C>T,R>*,stop-gained,DMD
rs397517337,10,+,71779351,GGGACCATTTGAAGTCACTGAGGGCCAGCCGGGGCCCAGAGTGTGGACCTT,C>T,Q>*,stop-gained,CDH23
rs1085307471,11,-,64808079,CACAGGCACCAAATTGGACAGCTCCGGTGTGGCCTTTGCTGTGGTTGGGGC,G>A,G>S,missense,MEN1
rs794728537,11,+,2778023,CAACACGATCGGCGCCCGCCTGAACCGAGTAGAAGACAAGGTAGGCTCACG,C>T,R>*,stop-gained,KCNQ1
rs727503171,11,-,47332580,CACTGCTATGCTCTGCTGTGCTGTCCGGGGTAGCCCCAAGGTAGGGAACTT,C>T,R>W,missense,MYBPC3
rs137852557,X,+,640836,TCTCCCCAAGGTTTGGTTCCAGAACCGGAGAGCCAAGTGCCGCAAACAAGA,C>T,R>W,missense,SHOX
rs80359823,1,-,42929298,GTCTGGCAGGTCTTCTATTACTCCACGAGCATCTTCGAGAAGGCGGGGGTG,C>T,T>M,missense,SLC2A1
rs1163061829_0,1,-,215674817,TCAGAAGTCAGCCCTCCAGATCTTTGGGCCGTCAGTGCCACTCAAATGAAT,G>A,W>*,stop-gained,USH2A
rs587776932,3,+,179230077,TGTAGCTACCTTCATTTTGGGAATTGGAGATCGTCACAATAGTAACATCAT,G>A,G>R,missense,PIK3CA
rs1057520292,X,+,154558650,AAGGAATGCCAGGCTCTGGAGGGTCGGTGAGTCGGGGGAGCCGGCTCCGGA,G>A,R>Q,missense,IKBKG
rs554294508,8,+,28717441,GAAGCCCTGGAAGTCGGTGCCGTCCCGGTGGTGCTGGGGGAGCAGGTCCAG,C>T,P>L,missense,EXTL3
rs1057519748,21,-,34859486,CATCAAAATCACAGTGGATGGGCCCCGAGAACCTCGAAGTAAGTGCATCCA,C>T,R>*,stop-gained,RUNX1
rs61754425,X,-,154032529,AGAAAAGTCAGAAGACCAGGACCTCCAGGGCCTCAAGGACAAACCCCTCAA,C>T,Q>*,stop-gained,MECP2
rs869312399,X,-,101398810,GAGAGAATTGTTGATGTTGCTGGACCAGGGGGTTGGAATGACCCAGATATG,C>T,P>L,missense,GLA
rs1057518075,2,+,188995061,TTATTTTCAGGGTGCCCCTGGGTTCCGAGGACCTGCTGGACCAAATGGCAT,C>T,R>*,stop-gained,COL3A1
rs751953459,6,+,80167737,ACAAGGAATTGTTGGATTTGGAATCGGAATTGCGGTCACTGGAGCTACTGC,G>A,G>R,missense,BCKDHB
rs121918396,19,+,44908979,CCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATG,G>A,W>*,stop-gained,APOE
rs137852424,X,-,154953991,CCTGTTTTCTGTATTTGATGAGAACCGAAGCTGGTACCTCACAGAGAATAT,C>T,R>*,stop-gained,F8
rs869312890,17,-,42339328,GCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGT,C>T,R>W,missense,STAT3
rs778139192_1,15,-,89629561,GGTCTTGGGACAGGTGGTGACGCTCCGAGAGGAGCAGCACCAGCAGCAGAT,C>T,R>*,stop-gained,KIF7
rs151110146,7,-,152649295,AGAAATGCTTTATCACCTAACAGCACGATGTATACTTCCCAAATCAGAAGG,C>T,R>*,stop-gained,XRCC2
rs138189536,1,-,11802981,GGACCCCGAGCGGCATGAGAGACTCCGGGAGAAGATGAGGCGGCGATTGGA,C>T,R>W,missense,MTHFR
rs758555274_1,12,-,49051366,GGCTGAGGAGCCACACCTGTCCCCCCAGCCTGAGGAGCCATGCCTATGCGC,C>T,Q>*,stop-gained,KMT2D
rs397507556_1,1,-,115768445,TTTCCCCACATATGATGGGAAGGACCGAGTGGTAAGTCTTTCCGAGAAGAA,C>T,R>*,stop-gained,CASQ2
rs200564757_1,15,-,67236060,TTTGCATATTATTTTAGGTATAAACCGACAAAAAGCTCAAGAATGGTGCAT,C>T,R>*,stop-gained,AAGAB
rs587783613,X,+,48527015,GAAAGAGTATGCCAAGGGAGACAGCCGATACATCCTGTAAGTGTTTGCCTC,C>T,R>*,stop-gained,EBP
rs886041578,18,-,55234563,GACTTCCCCTGACCTGAACCCACCCCAGGACCCTTACAGAGGTAGGTTGGC,C>T,Q>*,stop-gained,TCF4
rs118204109,11,+,119091515,CCTGCAGCGCATGGGCTGGCACAACCGGGTGGGGCAGGTAGGGCCTGCCCC,C>T,R>W,missense,HMBS
rs886041904,17,-,50187492,TCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTC,G>A,G>S,missense,COL1A1
rs1255777033,5,-,78969027,CCGGAAAGAATGCCTTCCAACCCGCCGAGGATTTGATACCTACTTTGGTAA,C>T,R>*,stop-gained,ARSB
rs386833560,9,-,6550883,GGAGGCAAGGGTCTTAAACAAGCCACGGAAACTGCGATATTAAATGCCAAC,C>T,T>M,missense,GLDC
rs121965019,4,+,1002747,CGCCCCGCAGATGAGGAGCAGCTCTGGGCCGAAGTGTCGCAGGCCGGGACC,G>A,W>*,stop-gained,IDUA
rs747619979,22,+,37734466,AGCCAAGCAGAGCCCCCTCATCCTTGGAGTCCTGAGAAGAGACCTGAGGGA,G>A,W>*,stop-gained,TRIOBP
rs62514959,12,-,102844424,ATTGACTTTCCATTCCAGATTTACTGGTTTACTGTGGAGTTTGGGCTCTGC,G>A,W>*,stop-gained,PAH
rs768643552,9,+,136418630,TGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTA,G>A,G>S,missense,PMPCA
rs1057517744,17,-,37739443,CGTCAGAAAGCAACGAGAGATCCTCCGACGTAAGTGTTTTCATCCTGCCTC,C>T,R>*,stop-gained,HNF1B
rs137852239,X,+,139551196,TTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGT,C>T,Q>*,stop-gained,F9
rs773279269,2,-,48725689,GCCCGGAGCATTTATAAATCTTCCCCGATTAAAATACTTGTGAGAAATTTT,C>T,R>*,stop-gained,LHCGR
rs104886189,X,+,108620354,TGAAAGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCC,G>A,G>R,missense,COL4A5
rs765702241_1,5,+,119456323,ATTTTGTTTTTGATTAGGATTGGGCCGAGCCTATGCCCTGGCTTTTGCAGA,C>T,R>*,stop-gained,HSD17B4
rs149105551_2,1,-,152309494,ACAAAGATCCCGCCACGAGCAGGCACGAGACAGCTCCAGGCACTCAGCGTC,C>T,R>*,stop-gained,FLG
rs765887545_1,2,+,202555415,ACCTTTGACTATAGGGGAAAAAAACCGAAATTCAATTAACTATGAACGACA,C>T,R>*,stop-gained,BMPR2
rs863223412,12,+,51915438,CAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTG,G>A,R>H,missense,ACVRL1
rs397514527,17,-,8076725,CCCACAGCTCCTCATCCCCCATACCCGATACACCGTCCAGATCAACAGCAT,C>T,R>*,stop-gained,ALOX12B
rs730882175,1,-,210804143,AGCACTTCTCTATGCCACCATCTTCGGGAATGTGACGACTATTTTCCAACA,G>A,G>R,missense,KCNH1
rs121908858,4,+,71339333,GAGCTCCACTTTCCTCAGGGTTGTCCAGCCAATGTTTAACCACAGTATTTT,C>T,Q>*,stop-gained,SLC4A4
rs587784350,22,-,38112547,GGATCCAGACGGGCGGGCTGTGGACCGGGCACGGGCCTGGTGCGAGATGGT,C>T,R>W,missense,PLA2G6
rs1057519193,1,-,215759786,AATTCTACAACAGTGGAATTATATTGGAGTCTGCCAGAAAAGCCCAATGGC,G>A,W>*,stop-gained,USH2A
rs781590560,2,+,219420150,AGCAGAGAACAATTTGGCTGCCTTCCGAGCGGTGAGTGCCCTTCTTTTCCC,C>T,R>*,stop-gained,DES
rs63750934,2,+,47414368,TGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGC,C>T,Q>*,stop-gained,MSH2
rs1135402768,19,+,11105393,GTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCC,C>T,Q>*,stop-gained,LDLR
rs121909673,5,+,162093965,CTGGAAGGATATGACAATAAACTTCGGCCTGATATAGGAGGTTTGTTAAAG,G>A,R>Q,missense,GABRG2
rs121917753,2,+,165373331,CTGAGGCCACTGAGAGCTTTGTCCCGGTTTGAAGGAATGAGGGTAAGACTG,G>A,R>Q,missense,SCN2A
rs863223491,2,-,189062865,GTCCTTCTGGTCCTGTGGGCCCGCCGGTATGTGATTTTTGTGTGTGTGTGT,G>A,P>P,synonymous-codon,COL5A2
rs121909307,20,-,34942488,GCCTCCCGGACCCCAGCTGTGCACCGGTGGGTCCCCTGGGCAGCCCCCGGC,G>A,R>Q,missense,GSS
rs104886103,X,+,108591135,TCAGAAAGGTGATGAAGGACCACCTGGAATTTCCATTCCTGGACCTCCTGG,G>A,G>R,missense,COL4A5
rs1803200,3,-,33014076,AGACTTGCCCCAGGACACCTTTATCCAGTTTCCTGGATGGACCAAGGTACG,C>T,Q>*,stop-gained,GLB1
rs201153410,2,+,233328542,CCCACTTGAGATGGGTCCCCAGCCCCGAGCTGAGGCGGCCTGGCAGTTCTT,C>T,R>*,stop-gained,SAG
rs179363897,2,+,169492900,GCTTATGAAACTTCTAAAATGTATCGTGATTTTAAATTAAGAAGTGCACTA,G>A,R>H,missense,BBS5
rs180177100,16,-,23635306,TGCAGAATATTATGTTAGAACAACACGAAGCATGTCCAATTGCCAGAGGAA,C>T,R>*,stop-gained,PALB2
rs61753979,X,-,154030471,CACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACAT,C>T,R>*,stop-gained,MECP2
rs1060499630,1,-,241513659,GAAGCGAGCGGCCGCTGAAGTAAACCAGGATTATGGTCTTGATCCAAAGAT,C>T,Q>*,stop-gained,FH
rs199470445,2,-,174753659,GGAGTCCCGGGGCTGGAAGCACTCCGTGACCTATTCCTGCTGCCCCGACAC,G>A,V>M,missense,CHRNA1
rs879254452,19,+,11102733,GTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGC,G>A,W>*,stop-gained,LDLR
rs121912996_1,6,+,7583062,GTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACT,C>T,R>*,stop-gained,DSP
rs1244655820,17,+,42543603,GATGAATACCAGCATCTGGTACAACCGATCTGATGTGTTTGAGGCCTGGCG,C>T,R>*,stop-gained,NAGLU
rs587779723,2,+,189004347,CATGCCAGGTCCTAGGGGAAGCCCTGGCCCTCAGGGTGTCAAGGTGAGTAT,G>A,G>S,missense,COL3A1
rs869312747,1,-,179552664,TTTTTCAGTAAAGATGTGAGGTTGCCAGCTGGGCTTCAGCACTCACTGGCT,C>T,P>L,missense,NPHS2
rs746307931,17,+,3659927,TGGCAACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGAT,G>A,G>R,missense,CTNS
rs587779350,12,-,102419619,AGGCATCGTGGATGAGTGCTGCTTCCGGAGCTGTGATCTAAGGAGGCTGGA,C>T,R>W,missense,IGF1
rs1180256773,3,+,193642817,GTGGCCCTATTTAAAGATAGTTCTCGGGAGTTTGATCTTACCAAAGAAGAA,G>A,R>Q,missense,OPA1
rs121918355_1,14,-,74555629,GCACGTGGGGTTGTCCCGCACTGTCCGACTTCACCCGACTGCCACGGCCAG,C>T,R>*,stop-gained,LTBP2
rs724159948,21,+,37490273,TGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACCTAACACG,C>T,R>*,stop-gained,DYRK1A
rs1302726543,4,+,88019499,ACTCATGGAGGAAAGCAGCACTAACCGAGAGAAATACCTTAAAAGTGTTTT,C>T,R>*,stop-gained,PKD2
rs119103230,21,-,36759781,TTATTACAGTGACCTCATGAAGATCGGCGGAGTTCTGGTTAACTCAACACT,G>A,G>S,missense,HLCS
rs104886071_1,X,+,108580548,TACTGCATAGGGACTTCCTGGTGACCGAGGGCCTCCTGGACCTCCAGGGAT,C>T,R>*,stop-gained,COL4A5
rs104893778,3,+,129533701,TACCGTGTCCAAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCC,C>T,Q>*,stop-gained,RHO
rs1057517745,20,+,44406196,TGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATG,G>A,R>Q,missense,HNF4A
rs119485094,16,+,81365405,GGAGCTGTATGTGTTTGGGGGAGTCCGAAGTCGTGAGGACGCCCAGGGTAG,C>T,R>*,stop-gained,GAN
rs137852513,X,-,8585354,TCAACTGACTGACATAAGACCCAGCCGATGGTACCAGTTTCGAGTGGCTGC,C>T,R>*,stop-gained,ANOS1
rs121434545_1,15,+,42384501,TTCACAGGAAATTTGCGAGAATCCCCGATTTATCATTGATGGAGCCAACAG,C>T,R>*,stop-gained,CAPN3
rs1300848445,19,+,39485570,TCCAATTCTGGTACAGCAGTTGCGCCGGACATACAAATATTTCAAAGATTA,C>T,R>W,missense,TIMM50
rs797045138,11,-,1753546,GGCCGCTACTACACTGTGTTTGACCGTGACAACAACAGGGTGGGCTTCGCC,G>A,R>H,missense,CTSD
rs1057516524,19,-,12658291,TACGCGGATGGCCCCCACCAGTTCTGGACCGGTTACTTTTCCAGTCGGCCG,G>A,W>*,stop-gained,MAN2B1
rs144467873,2,-,21006289,CACTTACTTGAATTCCAAGAGCACACGGTCTTCAGTGAAGCTGCAGGGCAC,C>T,R>W,missense,APOB
rs121918203,16,-,53645694,TTATGTTTTTGATGATAGTGATACCCAGGAGAATATTTACATAGGAAAAGT,C>T,Q>*,stop-gained,RPGRIP1L
rs113485686,2,+,189001554,TTTCCAGGGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCG,G>A,G>R,missense,COL3A1
rs115746363_1,1,-,152312410,ACAAGGATCCCACCATGAGCAGGCACGAGACAACTCCAGGCACTCAGCATC,C>T,R>*,stop-gained,FLG
rs1060500525,2,-,178559797,CTCATTTACCATGACTGTGCCTTTCCGAGGAAGACCAGTACCCAATGTCTT,C>T,R>*,stop-gained,TTN
rs118203914,16,-,71576247,GGCCAAGAAAACTTTCAACCCCATCCGAGCCATTGTGGACAACATGAAGGT,C>T,R>*,stop-gained,TAT
rs483353037,12,+,54283958,TGGAGGCCAATACTTTGCAAAACCACGAAACCAAGGTATGGTATCTATGTA,C>T,R>*,stop-gained,HNRNPA1
rs587780538,2,+,47799350,GGGCTGGTATTCATGAAAGGCAACTGGGCCCATTCTGGCTTTCCTGAAATT,G>A,W>*,stop-gained,MSH6
rs886044381,2,+,71513919,GCTGTCAGACAAACCGCAGGATTTCCAGGTGATGAACGGGCTTTCTCTGAC,C>T,Q>*,stop-gained,DYSF
rs121908581,2,+,169487811,TCTTTGCTTTTGGATTTTAGCTGTCGGTTACAATTGCATATTGAATATTAC,G>A,G>S,missense,BBS5
rs121913162,2,+,113129619,GAAGACCTTCTATCTGAGGAACAACCAACTAGTTGCTGGATACTTGCAAGG,C>T,Q>*,stop-gained,IL1RN
rs867966048,1,+,161340637,GATGTCCATCTGCCACCGTGGCACTGGTATTGCTTTGAGTGCAGGTATGTA,G>A,G>S,missense,SDHC
rs45517216,16,+,2072337,CTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCAT,C>T,Q>*,stop-gained,TSC2
rs764139968_2,16,+,88436738,GGCGAGCTCACAGGGGCCACAGAGCCGAAGGACAGAGGAGGCTGCAGGGGC,C>T,R>*,stop-gained,ZNF469
rs121913637,14,-,23425971,CAACCGCATCCTCTACGGGGACTTCCGGCAGAGGTGGGTATGAGGGTGCAC,C>T,R>W,missense,MYH7
rs199469629,5,-,137639021,TCCATTGCCAGCATGCAGGAGCGCCGGAGCACACTGGGCGCAGCGGTGCTC,G>A,R>Q,missense,KLHL3
rs786204875_0,10,+,87960913,TTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGA,G>A,W>*,stop-gained,PTEN
rs74315303_1,1,-,150799607,GAAAGCCCTGAAGAGGGCAGTGGCCCGAGTGGGACCTGTCTCTGTGGCCAT,C>T,R>*,stop-gained,CTSK
rs121434287,8,-,144415295,AGCGGGTCTTGCTTCCACGCCTTGCCGAGCCCTCAGTACTTCGTGGACTTT,C>T,P>L,missense,SLC39A4
rs121909723,2,-,27313032,GGGTCTGCAGGAACACCAGAGAGGCCGGACTCTGACCATGGTGTCCCTGGG,C>T,R>W,missense,MPV17
rs121912931,6,-,70281033,TTTTCTCCTACCCCTCCAGGGTGACCGAGGTCCTAAGGGCCCCCCGGGCCC,C>T,R>*,stop-gained,COL9A1
rs74315401,20,+,4699525,GGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAG,C>T,P>L,missense,PRNP
rs886037721,14,-,95095867,ATTCAAGAATAAGGCTTACCTTCTCCAGGCTTTTACACATGCCTCCTACCA,C>T,Q>*,stop-gained,DICER1
rs780673293,2,-,166277336,TAAACTTTATATTTGCTTTTAGCTCCGAGTCTTCAAGTTGGCAAAATCCTG,C>T,R>*,stop-gained,SCN9A
rs1057519454,9,+,136410732,GGGCTCGGGTTCTTGGGGCTGTTCGCGGCTGAGGTGAGCCAAAGGCGAACC,C>T,R>W,missense,PMPCA
rs1279918132,11,+,77179828,GGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGT,C>T,Q>*,stop-gained,MYO7A
rs121909598,2,-,208121728,GGGGACTATAGGCGCTACCAGGACTGGGGGGCCACGAATGCCAGAGTGGGC,G>A,W>*,stop-gained,CRYGD
rs1064794858,19,-,13262781,CACGATTAAATCCCTCCGAGTCCTCCGGGTGCTACGACCTCTTAAAACCAT,C>T,R>W,missense,CACNA1A
rs111033623,X,+,124365786,GTATCACGGTTACATTTATACATACCGAGTGTCCCAGACAGAAACAGGTTC,C>T,R>*,stop-gained,SH2D1A
rs1064795085,3,-,38599020,GCCATCGGAGGAGCCAGGCGGGCCCCAGATGCTGACCTCCCAGGCTCCGTG,C>T,Q>*,stop-gained,SCN5A
rs761651320,7,+,66087368,TGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGAC,C>T,R>*,stop-gained,ASL
rs74315477,22,-,50625674,CCCTGACTCTGCCCCCAGAGCCCTCGGCAGTCTCTCTTCTTCTACCCGTCC,G>A,R>Q,missense,ARSA
rs1057521092,7,-,44145651,ACCCTCGACCACCGACTGCGACATCGTGCGCCGCGCCTGCGAGAGCGTGTC,G>A,V>M,missense,GCK
rs104895564,19,-,53810809,CAGCGCGCCTCTCCAGGAGCTCATCCGAGTTCCCGAGCGCCTCCTTTTCAT,C>T,R>*,stop-gained,NLRP12
rs200391019,6,-,52024940,GGTGAACATCGGTGCTGAGCTCATCCGGTGCATTGTTCCCACAGGGAATGG,C>T,R>W,missense,PKHD1
rs104894704,19,-,50908596,GGGAACTCTTGCCTCGTTTCTGGCTGGGGTCTGCTGGCGAACGGTGAGCTC,G>A,W>*,stop-gained,KLK4
rs63750139,2,+,47806488,AGAAAATGAATGTGAAGACCCCAGCCAGGAGACTATTACGTTCCTCTATAA,C>T,Q>*,stop-gained,MSH6
rs121909683,2,-,85554269,TGAGGAGCTGACTAGCCTGCTGGTCGTGCACTGGGGTGGGCTGCTGCTTGA,G>A,V>M,missense,GGCX
rs879254805,19,+,11111603,CAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTG,C>T,Q>*,stop-gained,LDLR
rs587777057,16,+,56336744,TGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAA,G>A,G>R,missense,GNAO1
rs267608643,X,+,18604572,GCTCAGCCCTTCTGGAAGAAATAACCGAAATGAGGGAACGCTGGACTCACG,C>T,R>*,stop-gained,CDKL5
rs121913301,13,+,48368549,TAGTTTTGAAACACAGAGAACACCACGAAAAAGTAACCTTGATGAAGAGGT,C>T,R>*,stop-gained,RB1
rs886039544,12,+,120994229,CAGGGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAACTGGTTT,C>T,T>M,missense,HNF1A
rs74315366,1,-,17033078,TGAAGTTGACTCTACTTTGACCTTCCGAAGATCATGCAGAGAAGGTGAGCA,C>T,R>*,stop-gained,SDHB
rs199476122,M,+,3697,ATCAAACTCAAACTACGCCCTGATCGGCGCACTGCGAGCAGTAGCCCAAAC,G>A,G>S,missense,ND1
rs1057520918,19,-,13262780,ACGATTAAATCCCTCCGAGTCCTCCGGGTGCTACGACCTCTTAAAACCATC,G>A,R>Q,missense,CACNA1A
rs113994145,11,-,66851880,CCCTGGCGGCGGCTGCAGGAGCTCCGGGAGCTCATCCCCAACATCCCTTTC,G>A,R>Q,missense,PC
rs886041207,10,+,75022006,CGAAAAATAAATATTTGCATTCCCCGGAGAGCCGGCCAGTCACAGGGGAGC,G>A,P>P,synonymous-codon,KAT6B
rs387907010,1,+,108924083,CTCACAGAGTCGCCGTCTGGATGACCAGAGGGCTAGTTTCAGTAATTTGCC,C>T,Q>*,stop-gained,GPSM2
rs373525781,15,+,90763016,CAGAAATCTGAAACATGAGCGTTTCCAAAGTCTTAGTTTTCCTCATACAAA,C>T,Q>*,stop-gained,BLM
rs397516354,19,-,55154094,ATGATGCAGGCGCTGCTGGGGGCCCGGGCTAAGGAGTCCCTGGACCTGCGG,G>A,R>Q,missense,TNNI3
rs368918847_1,17,+,14207106,CGTGGACGCAGACCGCAGGAGCTCGCGGAGACTGTTCTTCTGCAGCCTGTG,C>T,R>W,missense,COX10
rs121965085,11,+,77174816,GTACTCAGGAATGATGGAGACCATCCGAATCCGCCGAGCTGGCTACCCCAT,C>T,R>*,stop-gained,MYO7A
rs797045360,X,+,78015810,CGTGGAGATATCATTAAAGTAGTTCCAGGAGGCAAATTTCCAGTGGATGGT,C>T,P>L,missense,ATP7A
rs199950178,18,-,13885095,CCACGCACTGCGGTACCACAGCATCGTGACCATGCGCCGCACTGTGGTGGT,G>A,V>M,missense,MC2R
rs794728517,11,+,2583474,CATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGTCGGGAAGACCATCGC,C>T,Q>*,stop-gained,KCNQ1
rs559590585,2,-,178608330,GAAGTTAACAGTACACATTGGTCTCGTGTCAACAAAAGCCTTCTGAATGCC,G>A,R>H,missense,TTN
rs1364690005,16,-,89282455,ATCTTCATCCAAGAAGAGCCACGACCGAGAGCGAGCCAAGAAAGAGAAGGC,C>T,R>*,stop-gained,ANKRD11
rs1057516045,1,-,225403404,TTATTTCACCATGTTGCTTGTCCACCGAGAAGCTCGTGACGAGTACCACTG,C>T,R>*,stop-gained,LBR
rs121912737,12,+,110340702,GGCTGCGTGGGCATGCTGGATCCTCCGAGAATCGAGGTGGCCTCCTCCGTG,C>T,P>L,missense,ATP2A2
rs118192151,19,+,38584974,CTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGACGAG,G>A,R>Q,missense,RYR1
rs397516484,1,-,201359244,TGCTTCCCCTGCAGCTCCAAGACCCGCGGGAAGGCTAAAGTCACCGGGCGC,G>A,R>H,missense,TNNT2
rs796052850,19,-,49864205,GTACCCAGAGATTCCCCGTAAGCTCCGAGAGCTGGAAGCCGAGGGCTACAA,C>T,R>*,stop-gained,PNKP
rs375086983,5,-,173232696,CCCGCCGGGCCTTCCCCAGCGCAGCCGGCCACTGCCGCCGCCAACAACAAC,C>T,P>L,missense,NKX2-5
rs121434288,8,-,144413288,CGCCTTCGCGTCCTCCTGGAAGACCGGGCTGGCCACCTCGCTGGCCGTGTT,G>A,G>R,missense,SLC39A4
rs28937593,10,+,72007942,GTCATCCAGCTGGTGCGCGACCCCCGGGCCGTGCTGGCCTCGCGCATGGTG,G>A,R>Q,missense,CHST3
rs869025544,2,-,178594134,GGCAAACCAAAGCCTAAGGTTTCCTGGTTCAAAGATGAAGCTGATGTGCTG,G>A,W>*,stop-gained,TTN
rs751478142,5,-,138570994,TTATGCTACCAAGCGTCTCATTGGCCGGCGATATGATGATCCTGAAGTACA,C>T,R>W,missense,HSPA9
rs1236962991,1,-,225411351,CAAATACTTTTGTGAATTGCGCCCCGGATTGATTGGATGGGTATGTCTGGT,G>A,G>R,missense,LBR
rs121909512,17,-,4902010,GGCGGCTCCGTGACGTGGCTGCCTCCGGCCATCTACCGCAGCGTCTGCGCA,C>T,P>L,missense,CHRNE
rs267606745,2,+,227295044,ACGTGATGGAATTCCTGGTCCAGCCGGAGAAAAGGGAGAAACGGGTACAAC,G>A,G>R,missense,COL4A3
rs104894663,18,-,59272465,GAACCGCACGACTTTCACCACGTACCAGCTGCATGAGCTGGAGCGCGCGTT,C>T,Q>*,stop-gained,RAX
rs146278035,16,+,57651421,CTACCACTTCTGCCTCTACTGGAACCGACATGCTGGGAGATTACATCTTCT,C>T,R>*,stop-gained,ADGRG1
rs202182978_1,16,+,89100709,GCTGCCCCATGTGGTGCTCACCTTCCGGCGCCTGGGCTGCGCCTTGGCGTC,C>T,R>W,missense,ACSF3
rs886039657,X,-,101371635,CATTGAAAGGTTCCCTTATCCCTTCCAGGTGAGTTATTTTCTCTCACCAAA,C>T,Q>*,stop-gained,BTK
rs796053098,2,-,165992144,TGACATGTTCAACTTTGAGACCTTTGGCAACAGCATGATCTGCCTATTCCA,G>A,G>S,missense,SCN1A
rs760576804_0,12,-,32878512,ACAACTGCCACTTATGAAGGTCGCTGGGGAAGAGGAACAGCACAGTACAGC,G>A,W>*,stop-gained,PKP2
rs587783019,14,+,21325372,CGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGAT,C>T,Q>*,stop-gained,RPGRIP1
rs397514679,X,-,47574321,CCGCCCGCCCGCCTCTCCGTCTCCCCAGCGCCAGGCGGGCCCCCCACAGGC,C>T,Q>*,stop-gained,SYN1
rs121908043_1,19,+,11113307,CATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCT,C>T,R>W,missense,LDLR
rs1114167692,2,+,47795914,TCTAGGTTCAAAATCAAAGGAAGCCCAGAAGGGAGGTCATTTTTACAGTGC,C>T,Q>*,stop-gained,MSH6
rs368861241,19,-,55154095,CATGATGCAGGCGCTGCTGGGGGCCCGGGCTAAGGAGTCCCTGGACCTGCG,C>T,R>W,missense,TNNI3
rs121913048,2,-,127279270,GAACCCCAACAAATTTAGAGCTTGCCAGTTTCTGATCAAGTTTCATGAAAG,C>T,Q>*,stop-gained,ERCC3
rs886039424,3,+,37048911,TGAATTTCTTTGGACCAGGTGAATTGGGACGAAGAAAAGGAATGTTTTGAA,G>A,W>*,stop-gained,MLH1
rs147030232_1,16,-,56501014,ACTCTTCCCTGCAGACACCATCATCCGAGCAGTATTGATTTTTGCAGAAGG,C>T,R>*,stop-gained,BBS2
rs201253919,1,-,52383437,CCTGCCAGAGCGAATCATGATGAACCGGGTGTCCAGCCGACTGGTAGGTTC,C>T,R>W,missense,ORC1
rs777830265,21,+,46355533,AGCGCTGGAGTCTCCCCTCTGCATCCAGCACGAGGGGCATGTCTCAGACAG,C>T,Q>*,stop-gained,PCNT
rs1439786424_1,12,+,32737153,CAGAGAATTACCTTCAGCTGTATCACGAGACAAGGTAAAAAAATGTTTTTA,C>T,R>*,stop-gained,DNM1L
rs863225075,13,+,114325386,TCCCCCAAAGCAGCCTCAGATATCTGGAAGCCTGTTCTCTCTATCGATACT,G>A,W>*,stop-gained,CHAMP1
rs121434604,3,+,46895866,GGAGGCACCCACTGGCAGCAGGTACCGAGGTACGTCTCTGCTTCCATGCAT,C>T,R>*,stop-gained,PTH1R
rs672601370,2,-,240775863,AGATTCCGTGTTGACCTGGCTCCTCCGGGAAAACCTGGGTGAGAACTTGTG,C>T,R>W,missense,KIF1A
rs397509369,2,+,189002343,CCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGTAAGTGTGAATATTTA,G>A,G>S,missense,COL3A1
rs1489209061,X,-,30308492,CAGCTGGTGCTGGTGCGCAACTGCTGGGCGTCCCTGCTCATGCTTGAGCTG,G>A,W>*,stop-gained,NR0B1
rs193922107,13,-,51939091,ATGGGTGTGGACGTGGTTCTGATCACGGGGGACAACCGGAAGACAGCCAGA,C>T,T>M,missense,ATP7B
rs397514712,14,+,50628155,AAGATGGGTGGGGAAGAATTTAGCCGGCGTTACCTGCAGCAGTTGGAGAGT,G>A,R>Q,missense,ATL1
rs876658166,16,-,23635168,AAACCTTTCCAATGAGGAAACTGACCAAAGTGAAATTAGGATGTCTGGCAC,C>T,Q>*,stop-gained,PALB2
rs762811727,11,-,78119193,TGGATTAATGCTACTCTCCATTGCACGATTATTTCAGGTAAACATAATTGT,C>T,R>*,stop-gained,ALG8
rs63750077,17,+,44350251,AGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATG,C>T,Q>*,stop-gained,GRN
rs145536062,2,+,70963195,TGCTAGAGAGGAGGTGCCTGGGCGCCGAGGGTTTCCTGGATATATGTACAC,C>T,R>*,stop-gained,ATP6V1B1
rs397516940,6,+,7580721,TGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAG,C>T,Q>*,stop-gained,DSP
rs1060501047,15,-,48600172,CTGCAGTGACGATCACTGTCTATGCCAGAAAGGATACATAGGGACTCACTG,C>T,Q>*,stop-gained,FBN1
rs746000327,10,+,116555268,GCCAAATTTGTGGATGTAATTCACACGGATGGTGCCCCCATAGTCCCCAAT,C>T,T>M,missense,PNLIP
rs766608075,22,+,19764232,ACGCCAGGCCGCGTGCACTACCACCCGGACTCGCCTGCCAAGGGCGCGCAG,C>T,P>L,missense,TBX1
rs397509423,3,-,49723293,GGCCTCTTCCTTCCAGCTGGGAATCCGAATCTCCATGTCCCATGAAGAGGA,C>T,R>*,stop-gained,GMPPB
rs1358275550,7,+,100723081,TTCCGAGTCTACTCCAATTTCCTCCGGGGAAAGCTGAAGCTGTACACAGGG,G>A,R>Q,missense,EPO
rs63750489,3,+,37020326,TCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCC,C>T,Q>*,stop-gained,MLH1
rs766313615_2,9,-,95467368,GGGGGTCAGCCTTTATGGCACCACCCGAGTGAGAGACGGGCTGGACCTTAC,C>T,R>*,stop-gained,PTCH1
rs193922361,19,-,17837171,GAGCTTGATGAGCCAAGTGTCGTACCGGCATCTCGTGCTGCTCCACGGCGT,C>T,R>W,missense,JAK3
rs587783519,X,-,111410284,TCACAGCGCCCACTGTAGCTTCTACCGAACCAGAACCTTGCAGGCACTGAG,C>T,R>*,stop-gained,DCX
rs28940314,14,+,67724550,GTAGTGGTGATCACTGGCGCCAACACGGGCATTGGCAAGGAGACGGCCAGA,C>T,T>M,missense,RDH12
rs104894311,11,+,1841523,GAGGAGAAGTCTGGCATGGAGGGCCGGAAGAAGATGTTTGAGTCCGAGTCC,G>A,R>Q,missense,TNNI2
rs1380642629,2,+,71598644,GAACACCCTTAACCCCACCTGGGACCAGACGCTCATCTTCTACGAGATCGA,C>T,Q>*,stop-gained,DYSF
rs886048933,12,+,109595046,CCCCTAGGAGCTCATTGACATGAACCAGCACCATCTGAATGCCCTCGGCGT,C>T,Q>*,stop-gained,MVK
rs202017613,13,+,25699294,AAGTACGCGCTCTCCTTCGAAGTCCGGAGGAGTTTCCTGGATTTGGCACTC,G>A,R>Q,missense,ATP8A2
rs147903984_1,5,+,71596297,TATCATAGGAGGTGGTGAGAAAGCCCGAGCACTTCACATATCAAGAGGAAA,C>T,R>*,stop-gained,MCCC2
rs724159975,22,-,50224196,TGACTTCAGCTACGCCCGTGAACTCCGAGACAGGGAGAGAAGGCTGAAGTC,C>T,R>*,stop-gained,TUBGCP6
rs886041494,5,-,11082831,GTTTTTGCAGTGGTCAGTATATATCCGAGCCGCTGTCCGAAAAGAGAAAGG,C>T,R>*,stop-gained,CTNND2
rs61762293,19,+,41869138,CGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCG,C>T,R>*,stop-gained,RPS19
rs1202682161,18,-,57674854,GCCATTTTGGACTTCAACAGTGACCGGAAGCGAATGTCTATCATTGGTAAG,G>A,R>Q,missense,ATP8B1
rs794729305,2,-,178535388,AAGATGGCTCCGTGTAGGACAGGCCCGAGAAACACGTTATACCGTGATCAA,C>T,R>*,stop-gained,TTN
rs749484894,20,-,44626468,AACTCCAAAGTGGAGCCAATCCCCTGGAACCAGGCTGAGTGAGTGATGGGC,G>A,W>*,stop-gained,ADA
rs72651658,17,-,50190861,CAAAGATGGCGTCCGTGGTCTGACTGGCCCCATTGGTCCTCCTGGCCCTGC,G>A,G>S,missense,COL1A1
rs763944786,19,+,38469119,TGACTCAGGCTCCGAAACAGCCTTCCGGGAGATTGAGATTGGGGACGGTGA,C>T,R>W,missense,RYR1
rs199473631,3,-,38551085,CTACATCATCATCTCCTTCCTCATCGTGGTCAACATGTACATTGCCATCAT,G>A,V>M,missense,SCN5A
rs797044875,3,+,41235763,GGAAGAAATAGTTGAAGGTTGTACCGGAGCCCTTCACATCCTAGCTCGGGA,G>A,G>R,missense,CTNNB1
rs886042043,12,-,47980643,ATTATAGGGTGCTGATGGCCAGCCTGGGGCCAAGGGTGAGCAAGGAGAGGC,G>A,G>R,missense,COL2A1
rs121908484,19,-,32843932,TTCCAGACTCATTTACGTGGCGGGCCGGGAGGGTCACATGCTCAAAGTGCT,C>T,R>W,missense,SLC7A9
rs104895461_0,16,+,50710912,CTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCA,G>A,R>Q,missense,NOD2
rs886039530,1,+,160130547,GCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGG,C>T,R>W,missense,ATP1A2
rs869312905,1,-,225422217,AACTTCCAGTTCCCCTTCCAGACGCCGAGGGAGTCGATCAAGGTCACGCTC,C>T,R>*,stop-gained,LBR
rs121908127,17,+,3660280,CGGAGACCCAACCAAGTTTGGACTCGGGGTCTTCTCCATCGTCTTCGACGT,G>A,G>R,missense,CTNS
rs375761361,22,+,41527949,CTGCTGCCTCTGACCTTCGCTGACCCGGCTGACTACAACAAGATTCACCCT,C>T,P>L,missense,ACO2
rs750614500,22,+,40358949,GGATCTCCAGAACTTGAAGCGTGTCCGAGATGACCTGCGCTTCCGGGGAGT,C>T,R>*,stop-gained,ADSL
rs121917820,6,-,31117017,GCCTGGACAAAGCTCTTCCTCTTCCCAGACCTTTGGGGTATCCAGCAGTGG,C>T,Q>*,stop-gained,CDSN
rs869312885,7,+,50382669,CACCTCTGCAACTACGCCTGCCGCCGGAGGGACGCCCTCACTGGCCACCTG,G>A,R>Q,missense,IKZF1
rs199472756,11,+,2583486,GGACAAGGTGCCCCAGACGTGGGTCGGGAAGACCATCGCCTCCTGCTTCTC,G>A,G>R,missense,KCNQ1
rs886042002,3,+,179199148,AAAGTAATTGAACCAGTAGGCAACCGTGAAGAAAAGATCCTCAATCGAGAA,G>A,R>H,missense,PIK3CA
rs1297118863,15,+,80186159,CTGCCAGGGGGATGGTTACCGCATCGGCTTTGGCCAGTGTGCTGGAAAAGT,G>A,G>S,missense,FAH
rs864321623,2,+,209777524,CTCCATGGCTACTGTGGAGCTCTTCGTGTTTCTGTTTGCTCCCCTGGTACA,G>A,V>M,missense,UNC80
rs104893655,2,-,113244494,CCCTACCATGTTTGCCTGGGAGATCCGAGACCGGCTCCTGGCTGAGGGCGT,C>T,R>*,stop-gained,PAX8
rs886039668,19,-,13317307,TTCCCTGGCAGGTTCTCCCTTCGCCCGAGCCAGCATTAAAAGTGCCAAGCT,C>T,R>*,stop-gained,CACNA1A
rs281865076,10,-,98435279,GGTGACTGTGGACGGTCATCTTATCCGAAAGGAGTGAGTCTTCAAAGCTGG,C>T,R>*,stop-gained,HPS1
rs546989392,13,+,76996010,TGGCAACTGTACATTTCCCCATCTCCGACCTGAAATGGATGCCCCTTTCTG,C>T,R>*,stop-gained,CLN5
rs267606622,2,-,214990791,CAACACCAACATTGCAGCTCTGATCGGAAGCCTCATCTACATCATTGCCTT,G>A,G>R,missense,ABCA12
rs1064793986,X,-,32454778,AGGTTTGGAGAAAACTGTAAGCCTCCAGAAAGATCTATCAGAGATGCACGA,C>T,Q>*,stop-gained,DMD
rs786204444,11,+,66515543,CTCTCTTCCCACATTGTCACAGGACCGAATCGACCCCTTAACCCTGAAGGA,C>T,R>*,stop-gained,BBS1
rs1114167300,3,+,7578878,ACCAGATGTGGCAGTGTGTTCTTTCCGGCGAGTTTTCTTGGGCTTGGGTAT,C>T,R>W,missense,GRM7
rs758355520_0,13,-,51937561,GTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCCAGGCAGACATGGGT,C>T,P>L,missense,ATP7B
rs77103971,19,+,12810323,GTGCCTGTTTTGCCCACAGGTGGCCCGGGACCAGGCCGTGAAGAAATGGCA,C>T,R>W,missense,RNASEH2A
rs267606870,15,-,90088703,GTGGAAAAGTCCCAATGGAACTATCCGGAACATCCTGGGGGGGACTGTCTT,C>T,R>W,missense,IDH2
rs148515772,X,+,154380902,CTCAGGGAACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCACG,G>A,R>Q,missense,EMD
rs267607093,4,+,55359444,TTCCTGGGAGCACCTTTTCCAAGCTGGCTTCATGGTTTGCTCAGAATTCTC,G>A,W>*,stop-gained,SRD5A3
rs863225087,15,+,74897711,GAGCCGAAGGACCTGCTGATATTCCGTGCCTGCTGTCTGCTGTAAAGGCTG,G>A,R>H,missense,MPI
rs587781372_1,2,+,47800915,TTGGGGGATTGGTAGGAACCGTTACCAGCTGGAAATTCCTGAGAATTTCAC,C>T,Q>*,stop-gained,MSH6
rs1472566324,11,+,77156676,CCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGAT,G>A,G>R,missense,MYO7A
rs104894065,7,-,19117111,CGGCGACGAGCCGGGCAGCCCGGCCCAGGGCAAGCGCGGCAAGAAGTCTGC,C>T,Q>*,stop-gained,TWIST1
rs531163149,16,-,70664131,CCCATCGTCCCTGTGAAGACGCCCACGGTGCCTGACTCCCCCGGCTACATG,C>T,T>M,missense,MTSS1L
rs1057516957,15,-,72375777,CTGCTCAGTCCTCGACGAGGCCTTCCAGCGCTATCGTGACCTGCTTTTCGG,C>T,Q>*,stop-gained,HEXA
rs397515626,21,+,43169161,ACCCTGGGGCCCTTCTACCCCAGCCGGCTGTTCGACCAGTTTTTCGGCGAG,G>A,R>Q,missense,CRYAA
rs121965031_2,4,+,1004286,CACAGGTGCTGTCTCTGGCTCCTACCGAGTTCGAGCCCTGGACTACTGGGC,C>T,R>*,stop-gained,IDUA
rs398123107,X,+,153743008,CTAGGTTGGGAGGCTATGTGTGACTGGAAGGACGTCCTGTCGGGTGGCGAG,G>A,W>*,stop-gained,ABCD1
rs773048903,19,+,41414149,ACGGACCTGGTGTTTGGCCAGTACCGGGAGGCAGGTACGTCTGTCCGTGGT,G>A,R>Q,missense,BCKDHA
rs200972872,3,-,48576249,TGCGAGGAGAGCCTGGAAGTGTGCCGGTGAGCCAGGCTTGGGATGTCCCCT,G>A,P>P,synonymous-codon,COL7A1
rs373091820,22,-,50582631,GCGTGACGCCGAGCGCCGAGCCTACCAATGGTGCCGGGAGTACTTGGGCGG,C>T,Q>*,stop-gained,CHKB
rs570388861_1,11,-,17408415,TGAGCACTGGAAGACCCTCATGAACCGACAGGACCAAGAGCTGGAGAAGGT,C>T,R>*,stop-gained,ABCC8
rs45517340,16,+,2084597,CCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGC,C>T,R>*,stop-gained,TSC2
rs760325316,14,-,23118701,GGAGCCCCGGGGGCCAGAGGGCAGCCGAGCTGCCAGCCGAGGCAGCTACAA,C>T,R>*,stop-gained,CEBPE
rs1057516679_0,15,+,80162336,AAGGAGAATGCGTTGATGCCAAATTGGTATGAACTGGGCCAAATGTCTGCA,G>A,W>*,stop-gained,FAH
rs387907288,12,+,57569275,CCCCAGAAAAGCTATGTTCCATATCGTGACAGCAAAATGACAAGGATTCTC,G>A,R>H,missense,KIF5A
rs1060500187,2,+,189010187,TTTTGTGACTATTCAGGAGAATACTGGGTTGACCCTAACCAAGGATGCAAA,G>A,W>*,stop-gained,COL3A1
rs104893640,2,-,20012423,GCTTCCGGGACCAGCGAGCCTGGCCGCGCCCGCGGTGCAGGTACAGGCGGG,G>A,R>H,missense,MATN3
rs797045200,8,+,144360192,CACAGGGGAGTTAGGATCAGGCCTCCAGGTGGGAGCCCCAGGAGCAGAGGA,C>T,Q>*,stop-gained,SLC52A2
rs1057518213,6,+,156779289,GCCGCCGCCGCCGCCGTCGCAGCCCCAGTCCCAGGCGGCGGCGGCGGGGGC,C>T,Q>*,stop-gained,ARID1B
rs1064422,22,-,23573483,GTGTGTCTCATGAATGACTTTTATCCGGGAATCTTGACGGTGACCTGGAAG,C>T,P>L,missense,IGLL1
rs587783577,X,-,111401028,CACAGAAGCCATCAAACTGGAGACCGGGGTTGTCAAAAAACTCTACACTCT,G>A,G>R,missense,DCX
rs74315287,1,+,54999214,GGCTGACGAGAAGACCTTCCGGATCGGCTTCATTGTGCTGGGGCTTTTCCT,G>A,G>S,missense,BSND
rs66913554,16,-,16154644,CCAGCTGCAGTACAAGTGTGCTGACCGAGGCGAGGACCTGAGGTATGGTCG,C>T,R>*,stop-gained,ABCC6
rs121964846,12,+,6869300,GGCCCATGCTCTGGCAGAGGGACTCGGAGTAATCGCCTGCATTGGGGAGAA,G>A,G>R,missense,TPI1
rs104894061,8,-,142876242,GAACTCACTGCAGGGAGCGTGGACACGGTCAGGCCGGCAACCAGCCCCACC,C>T,T>M,missense,CYP11B1
rs121918263,2,-,86252037,TGATTGTCTGGTCCAAGCAAAAGACCGAAGTTACGATGCCCTTGTGCACTT,C>T,R>*,stop-gained,REEP1
rs139310551_1,22,+,41176400,CAAGCACCTGGAGTTCTCTTCACTCCGAAGAGCCCAGTGGTCCACCATGTG,C>T,R>*,stop-gained,EP300
rs786204795,21,-,37714697,CTCAATAGAGACAGAAACCACCATTGGTTATGGCTACCGGGTCATCACAGA,G>A,G>S,missense,KCNJ6
rs768925619,19,+,12897406,GGGCCTTCACGCCTGCCTGCAGCTCGGCCGCTTGAAGGACCAGGACAAGTA,G>A,G>S,missense,GCDH
rs121918427,19,-,49061382,TGCCTGCGTCTGCACACTCCTCAGCCGGACTGGCCGGGCCTGAGACCCATG,C>T,R>W,missense,NTF4
rs1057516277,17,+,80117005,CTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCT,C>T,Q>*,stop-gained,GAA
rs386834019_0,1,-,46189870,GAGAAAGATGATGACTTCACCACCTGGACCCAGCTTGCCAAGGTGCTCCAA,G>A,W>*,stop-gained,POMGNT1
rs121909628_1,8,-,38414892,CTTCCTCCTTCCTCAGTGCATACACCGAGACCTGGCAGCCAGGAATGTCCT,C>T,R>*,stop-gained,FGFR1
rs794728650,11,-,64807997,CTCGCCCTGTCTGAGGATCATGCCTGGGTAGTGTTTGGGCCCAATGGGGAG,G>A,W>*,stop-gained,MEN1
rs137852316,X,-,154532676,TGCAAGCGCAACGAGCTGGTGATCCGCGTGCAGCCCAACGAGGCCGTGTAC,G>A,R>H,missense,G6PD
rs121913554,1,+,11972977,CTTCACCATCAACATCGCCCTGAACCGAGTCGGGGTGGATTACGAGGTGAG,C>T,R>*,stop-gained,PLOD1
rs121913580,1,+,236852578,TCTTTCCAACTTGTCCTTCTCCTTCCGAGGAATGGAAGCCATTCGAGAAGC,C>T,R>*,stop-gained,MTR
rs587777599,9,+,113288183,GTTTGGTTCCTTTCCAGTGATGAACCAGTGGCAGATATTGAAGGCCATACA,C>T,P>L,missense,PRPF4
rs773303931_1,14,-,24262037,CAATGCAGCTGGAGATGGCACCATCCGAGGTGAGGCCGGTCTGTCCTCCTC,C>T,R>*,stop-gained,TGM1
rs782308462,7,+,76054872,TGTGCTAGGGGCCTCTGGAGGCATCGGGCAGCCACTTTCACTTCTCCTGAA,G>A,G>R,missense,MDH2
rs948246694_1,X,+,22090435,TCTGTTTTTGTTTTTACAGCTGGACCAAGCAACACTCTCCCTGGCCGTGAG,C>T,Q>*,stop-gained,PHEX
rs1057520599,3,-,48575410,GCCTTCCGGCCTTGCCGGGGAGCCTGGAAAGCCTGGTATTCCCGGGCTCCC,G>A,G>R,missense,COL7A1
rs587779543,2,+,188999533,TACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCC,G>A,G>R,missense,COL3A1
rs193922350,X,-,71109275,CCACTCTGTGGAAGTGCTCAGCATTGGAGTGAATGGAGCCACCCAATCCAC,G>A,W>*,stop-gained,IL2RG
rs587781255,10,+,87933138,TGTTGCAGCAATTCACTGTAAAGCTGGAAAGGGACGAACTGGTGTAATGAT,G>A,G>R,missense,PTEN
rs137853323,X,+,154552186,CTGCCTGGAGGAGAATCAAGAGCTCCGAGGTGAGGAAAGAGTCAGGGGATC,C>T,R>*,stop-gained,IKBKG
rs1064794320,11,-,45914331,CATCGCAGAGTTTTTGTACATTGCCCGGCCGCTGCTGCACTGTATCCTTAG,C>T,R>W,missense,PEX16
rs1131690810,16,+,68815725,CCAGGAAATCACATCCTACACTGCCCAGGAGCCAGACACATTTATGGAACA,C>T,Q>*,stop-gained,CDH1
rs758543580,15,+,57273160,TAATGAAGCATTCAAAGAGCTTGGCCGAATGTGTCAGCTTCACTTGAAGAG,C>T,R>*,stop-gained,TCF12
rs80357296,17,-,43091987,TTCTGCTGTTTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTCC,C>T,Q>*,stop-gained,BRCA1
rs730880377,9,+,123370950,GACTCATTTCCGTTGCGACTGTGCCCGGCCCCATAGAGGTCCCACGTGCGC,C>T,R>W,missense,CRB2
rs149119723,21,-,43063943,TCAGTGGGCACGGGCGGCACCATCACGGGCATTGCCAGGAAGCTGAAGGAG,C>T,T>M,missense,CBS
rs397515430,19,+,40608315,CAGACCCCTGGGCCAGGAGCCACCCCGAGTGTCACTCAGCCAGCCTCGTAC,C>T,R>*,stop-gained,LTBP4
rs1057516298,9,-,95107266,CCTGTGAAATACTATTGCCCAGGTCCAGGTGAAGGCCGTGCTGGGCCACCT,C>T,Q>*,stop-gained,FANCC
rs72549410,3,-,38606058,CTACCTGGTGAACCTGATCCTGGCCGTGGTCGCAATGGCCTATGAGGAGCA,G>A,V>M,missense,SCN5A
rs104886225,X,+,108655403,TTCTGTGGGAGATCCTGGTTTGCCCGGATTACCAGGAACCCCTGGAGCAAA,G>A,G>R,missense,COL4A5
rs886037634,8,-,38421836,TACGTGCTTGGCGGGTAACTCTATCGGACTCTCCCATCACTCTGCATGGTT,G>A,G>R,missense,FGFR1
rs121917790,12,+,109581517,CTCCTGACTGTGTGCGAGGAGATCCCAAACCCGCTGAAGGACGGGGATTGC,C>T,P>L,missense,MVK
rs397509247,17,-,43057063,AGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCC,C>T,Q>*,stop-gained,BRCA1
rs137852761,11,-,94447288,AGCAGCAACCAACAAAGGAAGAGGCCGAGGAAGAGGTCGAAGAGGTGGAAG,C>T,R>*,stop-gained,MRE11
rs794728168,15,-,48513585,TTCGTACACCTGTCAGTGCCGAGCTGGATATCAGAGCACACTCACGCGGAC,G>A,G>R,missense,FBN1
rs1057517756,18,-,7049182,CAAGTTGTTGGAATTCACTTCTGCACGATATATTCGCCTTCGCTTGCAACG,C>T,R>*,stop-gained,LAMA1
rs121909098,18,-,57661207,CAAGAAAGCCATCACGCTGGCCATCGGAGATGGGGCCAATGACGTGAACAT,G>A,G>R,missense,ATP8B1
rs1351320025,15,-,44669869,GTGCCTCTCTTCTCATGCAGTGGTCCGAATCGAGGGTTCCCTGGGCCAGGT,C>T,R>*,stop-gained,PATL2
rs61755783,6,-,42721911,GCTCAAGAACGGCATGAAGTACTACCGGGACACAGACACCCCTGGCAGGTG,C>T,R>W,missense,PRPH2
rs587777097,9,-,128636991,GTATACCCTGGGCTACCCGCCAGCCCAAGCGCAGGGTCTGCATGTGACCAG,C>T,Q>*,stop-gained,WDR34
rs794729275,2,-,178595585,CATTCAAGGAAAAGCCTACTTTTTCCGAATTGCGGCTGAAAATAGTATTGG,C>T,R>*,stop-gained,TTN
rs149592537,16,-,84031901,CACCGTGCAGTACTACCTCTGGCCCCAGGGCCTCGTGCGTGAGTCCCATCC,C>T,Q>*,stop-gained,SLC38A8
rs118203995_0,4,+,3485607,CAGCTTCCTGTTCGACTGCATCGTCCGAGGCATCTCCCCCACCAAGGGCCC,C>T,P>L,missense,DOK7
rs121913302,13,+,48379624,CAAACTTGGAGTTCGCTTGTATTACCGAGTAATGGAATCCATGCTTAAATC,C>T,R>*,stop-gained,RB1
rs199422251,X,+,154773245,TACCCTCGGAAGTGGGGTTTAGGTCCAAAGGTAAGTGGTACTGGGTTGCGT,C>T,P>L,missense,DKC1
rs797044808,X,+,50070025,GAAGTCTCGAGACCGGGATAGGCACCGAGAGGTAAGACAAAAGATGGCACA,C>T,R>*,stop-gained,CLCN5
rs759226183,17,-,4900998,CTGGTGCTGCTCGCCTACTTCCTGCCGGCGCAGGGTAAGCAGTGGCCCCGA,C>T,P>L,missense,CHRNE
rs63751302,3,+,37007055,ACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGG,C>T,Q>*,stop-gained,MLH1
rs199476187,4,+,186194568,CATGCCGCTGCTGAAGCTCTGGGTCGGGCCAGTGCCCATGGTGGCCCTTTA,G>A,G>R,missense,CYP4V2
rs137853926,19,-,18598591,CTCCCATCCCCGCAGGTGGTATGGCCAGGACAACACATGTGAGGAGTACCA,C>T,Q>*,stop-gained,CRLF1
rs886039347,X,+,70035502,CGCAGGCGTCTGCCTCCTCAAGGCCCGGCAGAAGATCGCCGTCAAGATGGT,C>T,R>W,missense,EDA
rs121918542,2,-,232768790,AGGTGCTTTTGTGGCGAAGATTGCCCGGCCAAAAAATCGAGCTTTTTCAAT,C>T,P>L,missense,KCNJ13
rs121913399_1,3,+,41224612,GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCAC,G>A,G>R,missense,CTNNB1
rs367797185,17,+,63483494,TCAGGGGATCTGTCCTCCTGTTACCCGAAACGAAACCCACTTTGATGCTGG,C>T,R>*,stop-gained,ACE
rs1057518134,17,+,31219068,AGCAGAATTAATTACAGGGCTCGTCCAACTGGTCCCTCAGTCACACATGCC,C>T,Q>*,stop-gained,NF1
rs794727997,7,-,103503158,TCATGTGCAGTATTCTACTGACTTCGGTGTGAGTTGGAATTATCTGGTCCC,G>A,G>S,missense,RELN
rs1131690923,19,+,1220623,GGCGGACGACACCTGCCGGACCAGCCAGGGCTCCCCGGCTTTCCAGCCGCC,C>T,Q>*,stop-gained,STK11
rs387907302,9,+,2717965,GAAGGACGACCTGGCAGAAGAGGACCAGCAGGCAGGGGAGGTCACCACCGC,C>T,Q>*,stop-gained,KCNV2
rs1060503383,6,+,33441318,CTTTGAGGGTTACATCGACTTGGGCCGAGAGCTCTCCACACTGCATGCCCT,C>T,R>*,stop-gained,SYNGAP1
rs121912982,9,-,113389521,ACATTATACCCTCATCCCTTAGGACCGGGATGTACGGGAAGGAGCTGACAT,C>T,R>W,missense,ALAD
rs121908168,1,-,110064634,AACCCACTATCCTGATGTGTATGCCCGGGAGCAGCTGGCCCTGCGCACAGA,C>T,R>W,missense,ALX3
rs137852839,9,-,114403982,CGAGGCAGAGGCCAGCGCCCCAGGCCGAGGAAGGCAGTCGGTGTCCACCAA,C>T,R>*,stop-gained,WHRN
rs377767412,10,+,43114547,CTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCC,G>A,S>S,synonymous-codon,RET
rs528583612,3,-,25720179,CTACTCCTTATAGGTATATTTGGCCCGAAAGGAAGGATCATCTTTTGCTTA,C>T,R>*,stop-gained,NGLY1
rs80359825,1,-,42929009,GCTGTTTGTGGTGGAGCGAGCAGGCCGGCGGACCCTGCACCTCATAGGCCT,C>T,R>W,missense,SLC2A1
rs137852238,X,+,139551113,GTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTG,G>A,R>H,missense,F9
rs782308324_2,X,-,154350109,CATCCCTGGAAGCCCCTTCAAGATCCGAGTTGGGGAGCCTGGGCATGGAGG,C>T,R>*,stop-gained,FLNA
rs1327399690,16,-,23635864,CAGTGTATTAATTCCACCAACTGCCCAACCAGAAAAAGGTGTTGATACATT,C>T,Q>*,stop-gained,PALB2
rs912001256,17,-,63947062,CCTGCGTCCCCTGAGGGCACTGTCCCGATTCGAGGGCATGAGGGTGGGTGC,C>T,R>*,stop-gained,SCN4A
rs1064793742,X,-,31147421,TCCTGAAATGATGCCCACCTCTCCCCAGAGTCCCCGGGATGCTGAGCTCAT,C>T,Q>*,stop-gained,DMD
rs189768576,1,-,97828127,GACTCTTGGTGAGCGAGGAGCTCTCCGAGAAGCAATGAGGTAAGTCTGGGT,C>T,R>*,stop-gained,DPYD
rs587776952,10,+,76557271,AAACTCAGAGGGCAACAGGTTTATCCGAGATGACCAGCTCTGAAGCCAACT,C>T,R>*,stop-gained,LRMDA
rs1057518644,8,+,43192413,GCTGCTGGGAGACGATCACCTTTACCAGCACCCATCTTCTGCTGTGAGTGA,C>T,Q>*,stop-gained,HGSNAT
rs777112652,1,+,100484329,GTTGTGGGTCCAAGGAGACATTTTCCGATCCAAACTGAAAAATCGACCATC,C>T,R>*,stop-gained,CDC14A
rs121909745,3,-,170998308,GAAATTGGGCCAGGCCCGATCCCCTGGTTCATGGTGGCTGAGTTTTTCAGT,G>A,W>*,stop-gained,SLC2A2
rs754287486,7,-,87452954,CAACGACACCACTGAACTCAATACGCGGCTAACAGAGTAGGTACATTGTTA,C>T,R>W,missense,ABCB4
rs752059006_1,13,-,23353788,TGCTTTAAAGGAAGCTGCCCAAACCCGAGGTATTATAGTTTAGTATTCTTT,C>T,R>*,stop-gained,SACS
rs886039332,3,+,41234217,TTTGCGTGAGCAGGGTGCCATTCCACGACTAGTTCAGTTGCTTGTTCGTGC,C>T,R>*,stop-gained,CTNNB1
rs758543218,10,-,95633013,TAAAGATAATGATAGCCTGGCTGCCCGACTGGCTGTGGAAATGAAAACTGA,C>T,R>*,stop-gained,ALDH18A1
rs193922606,12,+,120994322,ATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTG,C>T,P>L,missense,HNF1A
rs121912886,12,-,47974090,TACACTGCCCTGAAGGATGGCTGCACGGTGAGTGGGGCTGCCAGAGAGAAG,C>T,T>M,missense,COL2A1
rs387906843,17,-,35106406,GATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAG,C>T,R>*,stop-gained,RAD51D
rs752667359,2,+,135134005,GGAATTTGTTCTTGAAATGCGTTTCCGATGGGAAAACAACTTTCTGATTCC,C>T,R>*,stop-gained,RAB3GAP1
rs1268762655,2,-,237350173,AGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGAC,G>A,G>R,missense,COL6A3
rs587781213,15,-,25355984,GGAAGATGACATGATGATCACTTTCCAGATATCACAGACAGATCTTTTTGG,C>T,Q>*,stop-gained,UBE3A
rs121913146,19,-,7267518,CTCTGTTACTTGGCCACTATCGACTGGTCCCGTATCCTGGATTCCGTGGAG,G>A,W>*,stop-gained,INSR
rs138671904,16,+,89544692,TGTCATCGTCCTGGCGTCCACGAACCGAGCTGACATTTTGGACGGTGCTCT,C>T,R>*,stop-gained,SPG7
rs121917904,10,-,49482809,TGGCTCACCGATGCAAAATAACCTCCGAGAGCTGTGGTCGCTCTTTGACTT,C>T,R>*,stop-gained,ERCC6
rs986500427,3,-,4467002,GGCTAACGCTCCGGGCCCCGTACCCGGAGAGCGGCAACTCGCGCACTCAAA,G>A,G>R,missense,SUMF1
rs775136381_2,3,-,70976982,AAATGAGATCTATAACTGGTTCACACGAATGTTTGCTTACTTCCGACGCAA,C>T,R>*,stop-gained,FOXP1
rs137853219,17,-,63918458,GCTTTTGGCCTGCTCTGCCTGCCCTGGCTTCAAGAGGGCAGTGCCTTCCCA,G>A,W>*,stop-gained,GH1
rs758683062,12,+,51913675,GGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGG,C>T,R>*,stop-gained,ACVRL1
rs118203727,9,-,132897547,AGAAAAAAACAGAAGCCATGTTCTCCAGCAGACTCAGAGGCTTGATACCTC,C>T,Q>*,stop-gained,TSC1
rs1205990349,11,+,6390626,GCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGA,C>T,Q>*,stop-gained,SMPD1
rs1057519510,3,+,9739762,CCACACGCCTCCAGGTTCAGCACGCCGACTGCCTGCCCTGTCCCACAGCGA,C>T,R>*,stop-gained,BRPF1
rs200056620_1,9,+,131513243,CGACAGCACTGTGTCTTCCAGGCACCAGCTGGTGGTGAGCAGCCCTCCGAG,C>T,Q>*,stop-gained,POMT1
rs1064797081,3,-,48566686,AGTGGTGGGGGCTCCTGGGGTCCCTGGAGCTCCTGGCGAGAGAGGGGAGCA,G>A,G>R,missense,COL7A1
rs765430501,21,+,46119806,TCTGCAGGGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAGCGA,G>A,G>S,missense,COL6A2
rs786201057,17,-,7675995,GGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGGCT,C>T,T>M,missense,TP53
rs61753046_1,1,-,93997932,CTCCTCCTCCCTGGCGAGGATCTTCCAGCTCCTCCTCTCCCACAAGGACAG,C>T,Q>*,stop-gained,ABCA4
rs1800556,12,+,120737875,TGCAGGAGCTGCGTCCACCACCGCCCGGGCCGAGGGCGACTCATGGGTTCT,C>T,R>W,missense,ACADS
rs121909131,1,+,16047917,CACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGT,C>T,P>L,missense,CLCNKB
rs142083484,10,-,80170859,TCCTCCGCCCAGCATGCCCCCCATCGGGCTGGATAACGTGGCCACCTATGC,G>A,G>R,missense,ANXA11
rs121908891,5,+,132390833,TGGCTGCTGCTGCAATATTTGCCCCGGCGCTATTCCATGGCCACTGCCCTC,G>A,R>Q,missense,SLC22A5
rs137853335,20,+,44413795,GCTCCTGCAGGCGGAGGTCCTGTCCCGACAGGTACCGGGGTGATCCTGCCA,C>T,R>*,stop-gained,HNF4A
rs754818927_1,14,-,95115704,GTTGAGGCCTGACGATGGTGGTCCACGAGTCACAATCAACACGGCCATTGG,C>T,R>*,stop-gained,DICER1
rs281865419,6,+,31577157,GGGGCAGCTCCAGTGGCTGAACCGCCGGGCCAATGCCCTCCTGGCCAATGG,C>T,R>W,missense,TNF
rs398124160,X,-,54495258,GGCTCTTGGCGGCCCACTGGATCCCCAGTTTGTCGGACCCTCGGACACCAG,C>T,Q>*,stop-gained,FGD1
rs119488099,10,+,93777592,CAAGTCAATTTCAAGACATACTTTCCGGGGACTAAAGTCATTAATTCACTT,C>T,R>W,missense,LGI1
rs121918053,15,-,89321777,GGTGACTGCCGGCACCATCACTCGCCGGGCTGTGGAGCCCACATGGCTCAC,C>T,R>W,missense,POLG
rs765907815_1,11,-,123083728,CATTGTGTATTACTGGCAGCGAATCCGAGAGAAAGAGGGAGAGGATGAACG,C>T,R>*,stop-gained,CLMP
rs104893803_1,3,+,181712823,CGCCGGCCTGGGCGCGGGCGTGAACCAGCGCATGGACAGTTACGCGCACAT,C>T,Q>*,stop-gained,SOX2
rs1057521145,20,-,51789112,GAGCAGTCTCCCTTCCACGTTTATCCGAGCCCCGCCGACCTATGTCAAGGT,C>T,R>*,stop-gained,SALL4
rs75559353,2,+,96809338,CATGCAGATCACTCGGCAGCAGTACCAGAACGGGCTGCTGGCTTCTCGCAT,C>T,Q>*,stop-gained,CNNM4
rs552651651,2,-,237334727,AAGCAGAACCTCACGGTCACGGACCGCGTCATTGGAGGCCTGCTCGCTGGG,G>A,R>H,missense,COL6A3
rs121912546,7,-,157006556,CCAGCAGCTGCTGGAGCTGGAGCACCAGTTCAAGCTCAACAAGTACCTGTC,C>T,Q>*,stop-gained,MNX1
rs62625308,17,-,43091924,CCATACACATTTGGCTCAGGGTTACCGAAGAGGGGCCAAGAAATTAGAGTC,C>T,R>*,stop-gained,BRCA1
rs137852694,14,-,36517739,GAACCACCGCTACAAAATGAAGCGCCAGGCCAAGGACAAGGCGGCGCAGCA,C>T,Q>*,stop-gained,NKX2-1
rs193922145,17,-,50191457,TGGTGCCCCTGGAGCTCCCGGTAGCCAGGGCGCCCCTGGCCTTCAGGGAAT,C>T,Q>*,stop-gained,COL1A1
rs587784177,5,+,177283827,GCTGGTCCCAAAGGAAACTATGCTCGGTTCATGAATCATTGCTGCCAGCCC,G>A,R>Q,missense,NSD1
rs1057517789,X,+,22077539,ATCCTACGGCATTCACCTTTCCGCTGGCCCGTGCTTGAATCTAATATTGGC,G>A,W>*,stop-gained,PHEX
rs727503840,X,-,41922934,TGTGTACGAGCTGTGCGAGGTGATCGGAAAGTGAGTCTCCACGCGAGGGAG,G>A,G>R,missense,CASK
rs137852520,X,-,153868866,TGCCTACCTTCTGTGCAAGGCCTTCGGAGCGCCTGTGCCCAGTGTTCAGTG,G>A,G>R,missense,L1CAM
rs786205697,1,+,214657139,TTCACAGCAATCTAAACAAGATTCCCGAGGGTCTCCTTTGCTAGGTCCAGT,C>T,R>*,stop-gained,CENPF
rs104886121,X,+,108597042,ACAGAAAGGGGAAAAAGGACAAGCTGGTGCAACTGGTCCCAAAGGATTACC,G>A,G>S,missense,COL4A5
rs1057519324,9,+,35801153,TGGTGTTTCCAGCTTCCTAATTTTCCGGTGAGTTCTGGGTTTCTTGCTGAC,C>T,R>*,stop-gained,NPR2
rs761333438,2,-,165994191,TCTACGCCATTATTATTTTACCATTGGATGGAATATTTTTGATTTTGTGGT,G>A,G>R,missense,SCN1A
rs398123789,2,+,71658995,GTGCTTGGTCCGTATCTACATTGTCCGAGCATTTGGCCTGCAGCCCAAGGA,C>T,R>*,stop-gained,DYSF
rs746206847,5,-,78969075,AGCAGGTTATACTACCCATATGGTCGGAAAATGGCACCTGGGAATGTACCG,G>A,G>R,missense,ARSB
rs121908867,14,+,81143028,GAATGCCTTGAATAGCCCCCTCCACCAGGAATATGAAGAGAATCTGGGTGA,C>T,Q>*,stop-gained,TSHR
rs751569402,11,-,687917,CGGCACTCTGTACAAGAACAGGCTCGGCTCAGGTGAGGACTGCCACTTCAG,G>A,G>S,missense,DEAF1
rs777006911,22,-,20765636,TAAGCCTCGGTTACAGAAGCTCTTCCGAGACTTCTGGCTGTATTCCGTTCT,C>T,R>*,stop-gained,PI4KA
rs28929483,2,+,47475130,GGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGAGAAAGGACAAGGA,C>T,P>L,missense,MSH2
rs376393123,3,+,41225850,CCTTCAAATTTTAGCTTATGGCAACCAAGAAAGCAAGGTAAGAGAATTATT,C>T,Q>*,stop-gained,CTNNB1
rs778224699,2,-,240788191,CTACGCGTCGCAGAAGCAGGTGTACCGGGACATCGGCGAGGAGATGCTGCA,C>T,R>W,missense,KIF1A
rs747179265,2,-,151490486,TCAGCGCCGGAGCCGGGAGCAGTCACGATCTGCCAGTGCACTAAGCATCAG,C>T,R>*,stop-gained,NEB
rs104894333,12,+,49954168,CTCTGTCCCCAGCTCAGCAACAGCACGACGGCTGGCCAGGCGGTGACTGTG,C>T,T>M,missense,AQP2
rs193302876,10,-,70598475,CTGCCCTCGGCAGAGGGGCCTGGCCCAGCTGGAGGTGACCTTCATCCAAGC,C>T,Q>*,stop-gained,PRF1
rs121918161,17,+,30997289,TTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGC,C>T,T>T,synonymous-codon,RNF135
rs886041158,1,+,193125206,GCACCTTTCTCATCCTGTTTATGTCCGACGTGCAGCTGTAAGTAGAATTCA,C>T,R>*,stop-gained,CDC73
rs137854493,X,-,68299067,TTCTTCTGCTGTTCAGAAATTTTCCCAGACGCTGCAGTCATTTCAGTTTGA,C>T,Q>*,stop-gained,OPHN1
rs797046101,X,-,49076469,TGTGTACTCCTTCCCCGACAATCCCCGAAAGCTGTTTGAGTTTGATACCCG,C>T,R>*,stop-gained,WDR45
rs769035379,12,+,55721344,ACTGCAGCTGGACCAGAGAGGCTTCCGAGTCCTGGCCAGCTGCCTGACCCC,C>T,R>*,stop-gained,RDH5
rs587779736,8,+,93780626,CAATCTAACATCTTGTCAAGCTCTTGGAAATATGTGTGTGATGAACATGAA,G>A,G>R,missense,TMEM67
rs878853083,1,+,228157775,CCCGCCCCTATGACCAACATGAGCTGGAGCTTCCTGACGCGGCTGCTGGAG,G>A,W>*,stop-gained,GJC2
rs121909392,20,-,3228259,ATCATGATCGCCATGATCCCCATCCGGTACAGGCGGGTGGGCAGTGGGCAG,G>A,R>H,missense,SLC4A11
rs386834093,8,+,99575719,CCCCGTTTTGACAGATTTTTCTGTCCGAATAACTGGAGCACCTGCTGTCAT,C>T,R>*,stop-gained,VPS13B
rs137854436,8,-,143728269,GCTCGCGGGCGCGCGGGGCTTCTTCCAGGCGCGGCACCTGGAGATGGACGC,C>T,Q>*,stop-gained,FAM83H
rs879254408,19,+,11100258,ATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAA,C>T,Q>*,stop-gained,LDLR
rs886041862,1,-,119915935,GAACCGCATGGAGGTGAATGAGACCCAGTACAATGAGATGTTTGGTATGGT,C>T,Q>*,stop-gained,NOTCH2
rs121912758_1,17,-,44254617,CTTCAAGGTGTCCAACTCCTCAGCCCGGGGCTGGGTCATCCACCCACTGGG,C>T,R>W,missense,SLC4A1
rs149806989,7,-,92517968,ACTCCTTATTCAGCCAAAGACACGCCGAGCCAAAGAGAATACATTTTCAAA,C>T,R>*,stop-gained,PEX1
rs137852626,19,-,17839585,AACCTTCCTTCTGGTTGGCCTCAGCCGACCCCACAGCAGTCTTCGAGAGCT,C>T,R>*,stop-gained,JAK3
rs515726205,19,-,29702966,TCCATGTTTTCTAGGGGGGGCTGTCGGGGGGCTGTTAGGTGCCTGGATGAC,G>A,G>R,missense,C19orf12
rs104894953,X,+,37728068,GACCTCATCAGCAAGTCCCATAATTGGTACCAGCTACTGGTGTATTACATG,G>A,W>*,stop-gained,XK
rs397507170,3,+,15635563,CGAGGCTGAATATTATGTGGCTGCCGTGTATGAGCATCCATCCATCCTGAG,G>A,V>M,missense,BTD
rs797045034,13,-,110177896,AGAAATGGGCGTCATGGGGACCCCCGGGCAGCCGGGCTCACCAGGACCAGT,G>A,G>R,missense,COL4A1
rs119103270,7,+,74777319,GACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTC,G>A,R>Q,missense,NCF1
rs1060499581,8,-,143934427,TCTACAGGGAGCGGTGCAAGCAGGCCAGCTCAAGGTGCCCCCTGGCTACCA,C>T,Q>*,stop-gained,PLEC
rs119463990,9,+,105596631,TGGTTTGTCAAAATCCAAAGGAAGCCGAATTGGATTTGATAGCACACAGTG,C>T,R>*,stop-gained,FKTN
rs72554644_0,X,+,78012885,TATCATTCCTATATTGCAGTTTTTCGGAGGCTGGTACTTCTACATTCAGGC,G>A,G>R,missense,ATP7A
rs77238412,4,+,73408735,CAAAGATGACAACCCAAACCTCCCCCGATTGGTGAGACCAGAGGTTGATGT,C>T,R>*,stop-gained,ALB
rs137853336_0,20,+,44413714,CACAGCCGTCCAGAATGAGCGGGACCGGATCAGCACTCGAAGGTCAAGCTA,C>T,R>W,missense,HNF4A
rs28934274,3,-,33068849,GGGACTGCTGGTTATCCTGAGGCCCGGGCCCTACATCTGTGCAGAGTGGGA,G>A,G>R,missense,GLB1
rs397515625_1,21,+,43169160,CACCCTGGGGCCCTTCTACCCCAGCCGGCTGTTCGACCAGTTTTTCGGCGA,C>T,R>W,missense,CRYAA
rs104893721_0,3,+,190408436,TAAATTTGGTTGGTCCTGTTGGCTCGGAATGGCTGGGTCTCTGGGTTGCTT,G>A,G>R,missense,CLDN16
rs557671802,13,-,110677007,GCCTCTCCCTGGGGACCCGGGAGGCCGGGCTGGCACATCGAGTGCTCTGCC,C>T,P>L,missense,CARS2
rs119455956,11,-,6615256,TCCAGTTACTTCAATGCCAGTGGCCGTGCCTACCCAGATGTGGCTGCACTT,G>A,R>H,missense,TPP1
rs762284875,22,-,50626992,CACTCCTTGCGACGGTGGCTGTGACCAGGGCCTGGTCCCCATCCCACTGTT,C>T,Q>*,stop-gained,ARSA
rs1473611414,2,+,73572759,CAGGAAAGAACTGTCCTTGGTGGACCGACTTGATCGTTTGGCTAAAATTCT,C>T,R>*,stop-gained,ALMS1
rs104893685_1,3,+,133450432,GTGGGAGAGAGATGTTGAAAAGAACCGGGTGGAGGCAGGAGCCCTGCTCCA,C>T,R>W,missense,BFSP2
rs137854535,20,+,58909737,CAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCT,C>T,R>W,missense,GNAS
rs72554645,X,+,78013089,GCTGTTTGTGTTTATTGCACTAGGCCGATGGCTGGAACATATAGCAAAGGT,C>T,R>*,stop-gained,ATP7A
rs1060501458,5,-,13891020,CAGCACGCCTCTTTGTCAGCTTCCCCAGGAGGAGCCACTAACCTGTGAAGA,C>T,Q>*,stop-gained,DNAH5
rs201422931,14,-,87988206,TAATACTGTTACTTCTTTTCACAGCCGAATTTTGGTGCCTCTTTGCATATT,C>T,P>L,missense,GALC
rs104893677,3,+,148741880,TGTAGAATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTTGTATA,C>T,T>M,missense,AGTR1
rs137852949_1,6,-,52058349,ACGGGAGAAGCACCAGATCCGAGTCCGAGCCCAGAGGCTTCCAGAAGTACA,C>T,R>*,stop-gained,PKHD1
rs794728805,1,+,237819067,ATGTTCCACATGTATGTTGGAGTTCGTGCTGGAGGAGGGATCGGGGATGAA,G>A,R>H,missense,RYR2
rs730880221,1,+,218434115,GTCCAAAGATTTAACATCTCCAACCCAGCGCTACATCGACAGCAAAGTTGT,C>T,Q>*,stop-gained,TGFB2
rs387907329_1,X,-,49075573,CAAGGAGAAACTGGTGGAGCTGCGCCGAGGCACTGACCCTGCCACCCTCTA,C>T,R>*,stop-gained,WDR45
rs746867724,9,-,136431090,TCCATCTTCAAGGGCTTCCAGGAGCCGGACATCCACTTCCTCCCATCATAC,C>T,P>L,missense,INPP5E
rs899142959,4,+,87662757,AGAAGACAGCAAGGAGAATCTGTCCCAGGAAGAGAGCCAAAACGTAGATGG,C>T,Q>*,stop-gained,DMP1
rs140470862,9,-,35091456,ACACATGCAGGAGGAGTTCCGGGGCCGGTTAGAGAGGACCAAATCTCAGGG,C>T,R>W,missense,PIGO
rs199932303,2,+,113062513,GGAATCCAAGAGCTTCACCTTCTACCGGCGGGACATGGGGCTCACCTCCAG,C>T,R>W,missense,IL36RN
rs369573693,19,-,40700387,CGTGGTTAAGGAGCTGTGCACGACACGGGTGCTGGGCATGGAGCTGGCTGG,C>T,R>W,missense,COQ8B
rs758069019,2,-,168924730,GAGAAACAACGCATTGCTATTGCTCGGGCCATTGTACGAGATCCTAAAATC,G>A,R>Q,missense,ABCB11
rs1057516519,17,+,7223823,GTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAA,G>A,W>*,stop-gained,ACADVL
rs72657316,7,+,21619178,GTTACACAGAGTGGAAGATGATGTCCGAAGGATTGTGGACAAGGCGGTGAA,C>T,R>*,stop-gained,DNAH11
rs763991433,12,-,48967981,GGAAGCTCCCCGGGACATCCAGGCACGAATGCGAATCCACAACAACAGGGT,C>T,R>*,stop-gained,WNT10B
rs137854547,20,+,45898065,CGGGGACAGCGGGGAGCAGATTGCCGGCTTCGTGAAGGAGTTCTCCCACAT,G>A,G>S,missense,CTSA
rs121434421,12,-,32802499,GAAGGAAAGTGGCCTGCAGCACACCCGAAAGATGCTGCATGTTGGTGACCC,C>T,R>*,stop-gained,PKP2
rs370595480,9,+,130480416,GCATGGCGTGGGCCGTATTGACATCGTGGAGAACCGCTTCATTGGAATGAA,G>A,V>M,missense,ASS1
rs1085307109,1,+,244053907,TGTTCTGGTGGGAGATGCCCAGTTCCGAGCGCACCGAGCTGTACTGGCTTC,C>T,R>*,stop-gained,ZBTB18
rs387907216,19,+,49168301,TGGGGGTCTGCACACGGGCATCGGCCGGCATGTTGGTGTGGCTGTACGGGA,C>T,R>W,missense,TRPM4
rs121918579,4,+,654119,GTGGTCTGTGCTGATGGGAGAGTCCCAGCCGTACTCGGGCCCACGCACGCC,C>T,Q>*,stop-gained,PDE6B
rs1057517701,1,-,94041328,TGGGGACCGCATTGCCATCATTGCCCAGGGAAGGCTCTACTGCTCAGGCAC,C>T,Q>*,stop-gained,ABCA4
rs4884357,1,+,11022301,TGGTAATAGCAGAGGGGGTGGAGCTGGTTTGGGAAACAATCAAGGTAGTAA,G>A,G>S,missense,TARDBP
rs397517963,1,-,216325448,AGACACAGCTGATAATAGAGTGTCACGGTTGAATCCTGAAGCCCATCCTCT,C>T,R>W,missense,USH2A
rs777327250,10,-,72508260,CCCATACATTCTATAGAAAATTTCCCAGGAACGAGAAAAATTTGCTGATGA,C>T,Q>*,stop-gained,MICU1
rs397515895,11,-,47343099,TGCCAAGCGTACCCTGACCATCAGCCAGTGCTCATTGGCGGACGACGCAGC,C>T,Q>*,stop-gained,MYBPC3
rs398123287,X,+,129569295,ATGCCGGGTTCCAGCCTGGTGTGACCGAATTCTTTGGAGAGGAACAAATGT,C>T,R>*,stop-gained,OCRL
rs587781287,17,+,58724090,AATACGGCTAATCTTTCATTGGGACCGAAAGCAAAGGTCAGTACAGAAACA,C>T,R>*,stop-gained,RAD51C
rs587779399,1,-,23854539,TTAGGATGAGGTGGTAGTAAATGACCGATGGGGTCAGAACTGTTCCTGTCA,C>T,R>*,stop-gained,FUCA1
rs886040303,17,-,43045728,GGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATACC,C>T,Q>*,stop-gained,BRCA1
rs1057524293,5,-,141528926,TCTTTACTAGATGGGCACTGTGCCCCGACTGCGGCCTCGCCTCAATGCCAT,C>T,R>*,stop-gained,DIAPH1
rs56361140_2,17,-,44260441,TGAAGACCAGATCCGGCCTCAGGACCGAGAGGAGCTGCTCCGGGCCCTGCT,C>T,R>*,stop-gained,SLC4A1
rs587779818,11,+,108227873,TCCAAACAAGGAAAATATTTGAATTGGGATGCTGTTTTTAGGTATTCTATT,G>A,W>*,stop-gained,ATM
rs104894402,13,-,20189359,TCACTACTTCCCCATCTCCCACATCCGGCTATGGGCCCTGCAGCTGATCTT,C>T,R>W,missense,GJB2
rs730880594,11,-,47332612,CCCCTGGTGAACCGCTCGGTCATCGCGGGCTACACTGCTATGCTCTGCTGT,C>T,A>V,missense,MYBPC3
rs193922491_1,17,-,37733663,CACCAACAAGAAGATGCGCCGCAACCGGTTCAAATGGGGGCCCGCGTCCCA,C>T,R>W,missense,HNF1B
rs368778231,19,-,43526554,CCTGGAAACAGCGCCTCGGGATGCCCAGCTGATCAAGGAGCTGGGGCTGCG,C>T,Q>*,stop-gained,ETHE1
rs137852756,2,+,202542331,CACAGGGGAATCCGTACCAGAGTACCAGATGGCTTTTCAGACAGAGGTTGG,C>T,Q>*,stop-gained,BMPR2
rs886037716,14,-,95096403,TTTGAGGATTTTGACTACAGCTCTTGGGATGCAATGTGCTATCTGGATCCT,G>A,W>*,stop-gained,DICER1
rs34885143,3,+,15635512,CGTGGTTGCCCTGGGAGCCCACACCGGGGAGGAGAGCGTGGCTGACCATCA,G>A,G>R,missense,BTD
rs755924637,17,-,40822092,CTGGCTTCCTACTTGGACAAAGTTCGGGCTCTGGAAGAATCAAACTATGAG,G>A,R>Q,missense,KRT10
rs794728051,2,+,189002973,CATGTAGGGACAGAATGGTGAACCTGGTGGTAAAGGAGAAAGAGGGGCTCC,G>A,G>S,missense,COL3A1
rs148311934,7,-,44149763,CCATCAGTGCGAGGTCGGCATGATCGTGGGTAAGGGCTCCTTGCACCCCTG,G>A,V>M,missense,GCK
rs121908674,11,+,68410076,AGTGGCGCGGCTGGACGGGCAGTTCCGGCAAGTCCTCGTGTGGAGGGACTT,C>T,R>W,missense,LRP5
rs80338934,5,-,149010272,CAGGCATCATGCAGTGGAGTACTACCGAGTAAGTCCAAGCTGTGCAGTTTG,C>T,R>*,stop-gained,SH3TC2
rs121917902,10,-,49524073,AGGAGGTCGGAAAGTGGGAAGATACCGAGATGATGGAGATGAAGATTATTA,C>T,R>*,stop-gained,ERCC6
rs773492223_0,5,-,78885747,ATGGAGCCTGTGGGAAGGAGGCGTCCGAGGGGTGGGCTTTGTGGCAAGCCC,C>T,R>*,stop-gained,ARSB
rs121908962,2,+,71551073,CTACCTGGGCTTCCTCCCCACTTTTGGGCCCTGCTACATCAACCTCTATGG,G>A,G>R,missense,DYSF
rs746721983,2,-,178706629,CCAAGGAGGTCGTGTTTTCATCCACCAAAAAGGCGATGAAGCAAAACTGGA,C>T,Q>*,stop-gained,TTN
rs748855607,17,-,63704405,TGACTCGCCCTCCCACCCCTACCACCGAACCTTCTCCCCCCACTTCCACCA,C>T,R>*,stop-gained,STRADA
rs758236584,21,-,43063958,GACATGCTGGTGGCTTCAGTGGGCACGGGCGGCACCATCACGGGCATTGCC,C>T,T>M,missense,CBS
rs104894003,7,-,5528536,CATCCTGCGTCTGGACCTGGCTGGCCGGGACCTGACTGACTACCTCATGAA,C>T,R>W,missense,ACTB
rs74315438,21,-,36461395,CATAGCCTGCGCCTGCGCCGTCATCGGGATGAAGTGCACGCGCTGCGCCAA,G>A,G>R,missense,CLDN14
rs397514658,8,+,144360932,GGCCATCCAGGTGGGCTCTCTGCTCGGCGCTGTTGCTATGTTCCCCCCGAC,G>A,G>S,missense,SLC52A2
rs794727861,X,-,32809577,ATTTGACTGGAATAGTGTGGTTTGCCAGCAGTCAGCCACACAACGACTGGA,C>T,Q>*,stop-gained,DMD
rs763463859,1,-,215628921,AAACCAAACCAGCCTAACCTACTCCCAGGGTTCTCTTCACCGCAGCGTCAG,C>T,Q>*,stop-gained,USH2A
rs749341977,19,-,35849274,GAGCTTGGAGCTGCCGTGCGTGGCCCGAGGGGGTAATCCCTTAGCCACACT,C>T,R>*,stop-gained,NPHS1
rs1239013578,10,-,100527060,CTGTCTTTCAGGTATGGCGACTACCCGAAGCTCCCTGACCGCTCACAGCAT,C>T,P>L,missense,NDUFB8
rs121909491,9,+,126693250,GACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGA,G>A,R>Q,missense,LMX1B
rs137854602,3,-,38555664,CAAGAAGCCCCAGAAGCCCATCCCACGGCCCCTGGTGAGCCAGGCTCCTGG,C>T,R>W,missense,SCN5A
rs63751108,2,+,47429881,AGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACT,C>T,R>*,stop-gained,MSH2
rs786204455,18,-,23536743,CTTTATTGACGCTCTGAAGAAAGCCCGACTTATAGCCAGTAATGTCACCGA,C>T,R>*,stop-gained,NPC1
rs387907225,11,-,2884670,GAAGCTGTCCGGGCCTCTGATCTCCGGTGAGCCCCGCACGGCCCCGCCCCG,G>A,D>N,missense,CDKN1C
rs36211723,11,-,47338520,GGTCAACCTCACAGTCAAGGTCATCGGTGAGGCCGGCCGGGGTCCAAGCTG,G>A,D>N,missense,MYBPC3
rs869312402_0,X,-,101398801,GTTGATGTTGCTGGACCAGGGGGTTGGAATGACCCAGATATGGTAAAAACT,G>A,W>*,stop-gained,GLA
rs879255596,18,+,58390680,CTCATGGACGCCGAAAAGCGTATCCGGTTACTGCAGTTTGTCACAGGGACA,G>A,R>Q,missense,NEDD4L
rs397515453,5,+,68296301,GAAGCGAGATGGCACTTTTCTTGTCCGGGAGAGCAGTAAACAGGGCTGCTA,C>T,R>W,missense,PIK3R1
rs104886185,X,+,108615024,GATTCCTGGGCCAATAGGTCAACCTGGTAAGATTAGAGTAAATGTGCATTT,G>A,G>S,missense,COL4A5
rs193922569,19,+,11120224,TATGGTTCTCTTCCACAACCTCACCCAGCCAAGAGGTAAGGGTGGGTCAGC,C>T,Q>*,stop-gained,LDLR
rs199469655,2,-,224503793,CAGAACAAGAAGTAGAAACAATATTGGATAAAGCAATGGTCCTTTTTAGGT,G>A,L>L,synonymous-codon,CUL3
rs113001196,15,-,48432947,CCAGAATCCTCTGCTCTGTGCCTTCCGATGTGTGAACACTTATGGGTCATA,C>T,R>*,stop-gained,FBN1
rs886044125,17,-,50188610,TGACCGTGGTGAGACCGGCCCCGCTGGACCCCCTGGTGCTCCTGGTGCTCC,G>A,G>R,missense,COL1A1
rs61751444,X,-,154030903,ACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAA,C>T,R>W,missense,MECP2
rs875989883,X,+,22219070,TTATGGTGCTATAGGAGTAATTGTCGGACATGAATTTACACATGGATTTGA,G>A,G>R,missense,PHEX
rs1227149616,20,+,3218525,TCACTGCCCACCCGCAGGTCTCCACCAGCTCCTGGCCGGGTTCGAGGACAA,C>T,Q>*,stop-gained,ITPA
rs200585917_0,16,-,49636414,CGGCTGCGGGACCACAATATCCGGCCGGGCGAGGATGATGGCTCACGCAAG,C>T,P>L,missense,ZNF423
rs121964875,16,+,68738307,TTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGC,G>A,W>*,stop-gained,CDH1
rs121909324,19,-,13255217,CGCCATCAGCGCCAAGCCGCTGACCCGACACATGCCGCAGAACAAGCAGAG,C>T,R>*,stop-gained,CACNA1A
rs779592523_0,17,+,16000127,GAGCCCCTTCCCGCAGCGCTCGCCTGGTTCTCGAGGCCCGCTGCGGCAGAG,G>A,W>*,stop-gained,TTC19
rs727505006,15,-,48487402,GTGTCAGAGAGATCCTCTCCTATGCCGAGGTGGTGTTTGCCATAACACAGA,C>T,R>*,stop-gained,FBN1
rs573432153_0,3,-,48575081,ACTCCCTGGAACCCCTGGGCCCCCCGGACCCCCTGGCCCCAAGGTGATCAC,G>A,G>R,missense,COL7A1
rs281874664,X,+,108591186,ACTTGACGGACAGCCTGGGGCTCCTGGGCTTCCAGGGCCTCCTGGCCCTGC,G>A,G>R,missense,COL4A5
rs387906887,9,+,131039043,GATGCCATGCCAGCCCTGTGACTGCCAGTCGGCAGGTGAGTGGACTCCACA,C>T,Q>*,stop-gained,LAMC3
rs587777626,16,-,869908,TCCCCGTACCACTACCGCCTGGACTGGCTGATGTGGTTCGCGGCCTTCCAG,G>A,W>*,stop-gained,LMF1
rs797045673,X,-,153866802,CGTGCAGTGGCGCCCTCAGGGGACACGAGGGCCCTGGCAGGAGCAGATTGT,C>T,R>*,stop-gained,L1CAM
rs397509171,17,-,43076573,GAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGA,C>T,Q>*,stop-gained,BRCA1
rs879253747,6,+,157167101,TATGGCTTCCAGCTCTCCCTACAGCCAGCCCATGAACAACAGCTCTAGCCT,C>T,Q>*,stop-gained,ARID1B
rs80358374,5,+,37000513,TTCAGGTGGTGGTCGTTATCGAAACCGAAGTCCGTCAGATTCTGACATGGA,C>T,R>*,stop-gained,NIPBL
rs786203115,1,-,45332300,GTTCCCTTCTTTTAGGGGTCTAGCCCAGCAGCTGGTGGACCCAGCCCGGCC,C>T,Q>*,stop-gained,MUTYH
rs104894803,X,+,68829886,GCCAAGAACCTGGAGCCCGTATCCTGGAGCTCCCTCAACCCCAAGTGAGTA,G>A,W>*,stop-gained,EFNB1
rs587784327,22,-,38129523,GATGATCAAGGCCCTCATCGTGTTCGGAGCAGAAGTGGACACCCCGAATGA,G>A,G>R,missense,PLA2G6
rs118192236_1,20,-,63413472,AGCCGGCCACCTGGACATGCTGTCCCGAATTAAGAGCCTGCAGTCCAGGCA,C>T,R>*,stop-gained,KCNQ2
rs121918478,11,+,46728746,GTACAACTGGCGGGAGAACCTGGACCGGGACATTGCCCTGATGAAGCTGAA,C>T,R>W,missense,F2
rs397507966_1,13,+,32363393,AGATGGGTGGTATGCTGTTAAGGCCCAGTTAGATCCTCCCCTCTTAGCTGT,C>T,Q>*,stop-gained,BRCA2
rs1154510,12,-,121857429,CTGCTGCAACCCTGTGATTCAGGCCACGTCATTCTACTGCAGCAAGATGGG,G>A,A>T,missense,HPD
rs587780088_1,1,-,45334493,GTTTCAGGCCATCATGAGGAAGCCACGAGCAGCCGTGGGAAGTGGTCACAG,C>T,R>*,stop-gained,MUTYH
rs1391644554,2,-,175939613,ACCTTTAGCAAGACCTATTCTCCCCCGAGAACGAGGTGCTTTGGATAGAAT,C>T,R>*,stop-gained,LNPK
rs773136605,6,-,52043102,CATCAACCTAATGATTTACATTACCGGAACTGGTTTCTCTGGTGACTCCCA,G>A,G>R,missense,PKHD1
rs121965088,3,-,14158148,GGGCATTGACAGTGACGGCTGGGTCCGAGATGTCACACAGAGGTACGACCC,C>T,R>*,stop-gained,XPC
rs189150283,22,+,20992304,GGAGCGGGTTGGCTTCAAGAAGTCCCGAGATGTGTTTGGCCTGGACTTTGG,C>T,R>*,stop-gained,LZTR1
rs863223454,9,+,134818707,TGGGAAGACTGGCCCCATCGGCCCCCAGGGGGCCCCTGGGAAGCCCGGACC,C>T,Q>*,stop-gained,COL5A1
rs397515829,15,-,48445424,TAATACAGTGGGGTCTTTCCAGTGCCAGTGCAATGAAGGCTATGAGGTGGC,C>T,Q>*,stop-gained,FBN1
rs869312121,2,-,178546476,TCCACCCAAAGCCGAACTGGATGCCCGATTACACGGTGATCTGGTTACCAT,C>T,R>*,stop-gained,TTN
rs869312757,3,-,52405163,TCACCCCAACCCCACTCCCATTGTCCAGCGGCTGCCGGCCTTTCTAGACAA,C>T,Q>*,stop-gained,BAP1
rs751078884_1,13,-,51946346,GCCCACGGCTGTCATGGTGGGCACCGGGGTGGCCGCGCAGAACGGCATCCT,G>A,G>R,missense,ATP7B
rs796052888,15,-,89321776,GTGACTGCCGGCACCATCACTCGCCGGGCTGTGGAGCCCACATGGCTCACC,G>A,R>Q,missense,POLG
rs80338697_1,15,-,42726390,CGTGCTCTCCTTGGCCGTGGGGCCACGGGACCCTGACGAGGGAGTCTCCCC,C>T,R>W,missense,CDAN1
rs397514362,3,+,15644322,ACACCTTTTTTTCCTCTAGGTGCTCCAGCGCCTGAGTTGTATGGCCATCAG,C>T,Q>*,stop-gained,BTD
rs118204026_1,22,+,37723595,CACCCCCAGAGCTTCCTCTCCCTCACGAAGCACCCAACTGGATAACCCCAG,C>T,R>*,stop-gained,TRIOBP
rs587777604,20,-,25317064,TTCTTCTCCAGAGGAGGCGACCACCGCGTGGAGCTTTACAAGGTGAGTGCA,G>A,R>H,missense,ABHD12
rs780775497,X,+,111147758,ACAGGGAATTCCAGAGCAATGGGCACGATTACTCCAAACTTCCAACATAAC,C>T,R>*,stop-gained,PAK3
rs1344899647,3,+,124740164,CCTTATTGCGGAAATGAGCTCCACCGGCTCCCTGGCCACTGGGGACTACAC,G>A,G>S,missense,UMPS
rs137852757_1,18,+,23907639,GATAGACACCAATCTCACAACTCTCCGAGATGGTCTTCATGGGATACAGAG,C>T,R>*,stop-gained,LAMA3
rs1057519475,6,+,1610761,GAAGATCACCCTGAACGGCATCTACCAGTTCATCATGGACCGCTTCCCCTT,C>T,Q>*,stop-gained,FOXC1
rs387906623,15,-,48460258,AGGCTTTGTCATCGACATTTATACCGGTTTACCCGTTGGTGAGTCATGACG,G>A,G>S,missense,FBN1
rs758595075_1,1,-,225921590,TGGTGGGGTGAAGATGGGTTTGCCACGGCGCCTGGCAATCCAACTCGGGGC,C>T,R>W,missense,PYCR2
rs1131691807,11,-,64753982,AGGACCTGTGCCTACACCAACCACACGGTGCTGCCCGAGGCCCTGGAGCGC,C>T,T>M,missense,PYGM
rs76397662,10,+,43102345,CAGACCTGACTTCTCTCTGCAGACCGCGGCTTTCCCCTGCTCACCGTCTAC,G>A,R>H,missense,RET
rs376078512,9,-,13168409,CATCAGTGTAACCAATGCCCAGGCACGAGCTATGTTGAGAAGACATTCTCT,C>T,R>*,stop-gained,MPDZ
rs104894903,X,+,152850418,GTTCTTTCTGGGTGACCTCTGCAGCCGACAGGTAATGGACCATGCAGCCTT,C>T,R>*,stop-gained,NSDHL
rs587777408,11,-,686992,ACTGCTGCCCTTCCTTGCAGGCGGCCGGGGACGGTGCATCAAGCAGGGGGA,C>T,R>W,missense,DEAF1
rs761821795,19,+,46755763,CCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGC,C>T,Q>*,stop-gained,FKRP
rs199472807,11,+,2777002,TCTCTCCAGGCTGGACCAGTCCATTGGGAAGCCCTCACTGTTCATCTCCGT,G>A,G>R,missense,KCNQ1
rs147416429,5,-,37153973,TTTAGGTCTGCCAAAACCAGAGTTCCGATTCAAAGGACAGAGCACAAAGTC,C>T,R>*,stop-gained,C5orf42
rs879253717,X,-,153864893,CAGCCCCCACCTGCGGTACCGCTTCCAGCTTCAGGCCACCACCAAAGAGGG,C>T,Q>*,stop-gained,L1CAM
rs781951909,11,+,77162889,CACCATGTTACACAAGCTGAACTCCCAGCACAAGCTCAACGCCAACTACAT,C>T,Q>*,stop-gained,MYO7A
rs1057519572,10,+,68197362,TGCTTGTTGTTATAGGGGAAGATCCCGAGTGCAAGAAAGAGACAAAGAGCC,C>T,R>*,stop-gained,MYPN
rs147713329_2,15,-,44573661,AATCTTGGCCTCTCAGCAGCCTGACCGATGCAAACGAGCCCAGGCCTTCAT,C>T,R>*,stop-gained,SPG11
rs1135401805,6,+,33443742,GGGCAGCGGTGGGGGTGGCGGGGGCCAGCCGCCTCCATTGCAGAGGGGCAA,C>T,Q>*,stop-gained,SYNGAP1
rs121917903,10,-,49532736,AGGGCCAGCCCTGCTGCACATCGACCGACATCAGATCCAGGCAGTAGAGCC,C>T,R>*,stop-gained,ERCC6
rs1085307151,2,+,202377512,CTGCAGCGGCCCTGGCGGGTGCCCTGGCTACCATGGACCATCCTGCTGGTC,G>A,W>*,stop-gained,BMPR2
rs137852925,4,-,5628590,GGGCCTTCTGAGCACCGCTGCAGCCCAGCTGACTCACCTCATTCAGAAGCA,C>T,Q>*,stop-gained,EVC2
rs386834080,8,+,99442617,GCAGGAGATTCCATTTGTTATCCCACGACCCATCCTTGAAGAAGGTATATG,C>T,R>*,stop-gained,VPS13B
rs150932144,9,-,127825744,GGGCTGCCACTTGGAAGGCGTGGCCGGCCACAAGGAGGCGCACATCCTGAG,G>A,G>S,missense,ENG
rs377767383,18,+,51078408,TGAAATTCACTTACACCGGGCCCTCCAGCTCCTAGACGAAGTACTTCATAC,C>T,Q>*,stop-gained,SMAD4
rs886041857,15,+,92949055,GATTATCAGCTAGAAGGTCTAAACTGGCTAGCTCATTCCTGGTGCAAGTAG,G>A,W>*,stop-gained,CHD2
rs587777073,7,-,152194506,TCAGCCAAATGTCAATCAGAGTTCACGACCATTAAGTGAAGAACAGCTAGA,C>T,R>*,stop-gained,KMT2C
rs121434397,1,-,44827617,CTGGCCCTGACGGATGTGGTGCCTCGGGGCACCAAGGAGCATGCCTTCCTG,G>A,R>Q,missense,PTCH2
rs558998633,3,-,49419764,GGACAAGGTCAGGGAGCTTCAGAACCAGGGCAGAGATGTGGGCCTGGAGGT,C>T,Q>*,stop-gained,AMT
rs768056213,2,-,127654493,AAGGCCATGAACAACAACTGGCACCCGGGCTGCTTCCGCTGCGAGCTGTGT,C>T,P>L,missense,LIMS2
rs386834053,17,-,58210980,CCGGCTCTTTGTAAATGGAGAGGTCGGTAAGTGTCTTGCTAGCATAGATCT,G>A,V>I,missense,MKS1
rs886041154,3,+,122254353,AAAGATCAAGATCTCAAATCAAGGCCGGAGTCTGTGGAATGTATCAGGTAA,C>T,P>L,missense,CASR
rs28989186,15,+,40176672,ACTAGAAAGACTACAGTCCCAGCACCGGTAAACTTTCTTTGGAGCTTGTCT,C>T,R>*,stop-gained,BUB1B
rs772801089,10,-,49472377,CACCATTGAAGAAAAGATCTACCACCGGTCAGTGCACACAGTGGCCACTCT,C>T,R>*,stop-gained,ERCC6
rs397514613,15,-,65026868,TGTTGGAGTAGTGGCTTCGTTTGGCCGACTTTTGAATGAGGCTCTTATTCT,C>T,R>*,stop-gained,MTFMT
rs180177207,2,+,240869350,TTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGC,G>A,G>R,missense,AGXT
rs748302886,16,+,2496827,GGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGA,C>T,R>W,missense,TBC1D24
rs373740199_1,20,+,63693247,CTATCGGCCTGAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCT,C>T,R>*,stop-gained,RTEL1
rs1131691878,8,-,41977091,CCTTCCCCTGATGGGCGGAAAGCTCGGGGGGAAGTGGTGGACTACTCTGAG,G>A,R>Q,missense,KAT6A
rs104886244,X,+,108667165,AGGCTTTGGAAACCCAGGACCCCCTGGACTTCCAGGACTTTCTGGTAAACC,G>A,G>R,missense,COL4A5
rs149705131,1,-,113901236,CCCATTGCTCACCATCTCTTAAATCGGTTTGGATGCCTCAGCACTCTTTTT,G>A,R>Q,missense,AP4B1
rs875989922_0,19,+,11113645,GACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTC,G>A,W>*,stop-gained,LDLR
rs876658658,17,+,31095340,CGCGCACAGGCCGGTGGAATGGGTCCAGGCCGTGGTCAGCCGCTTCGACGA,C>T,Q>*,stop-gained,NF1
rs200293302,17,+,58703201,AGAGTGTTTTGTTGTTTCAGAACACCGAAAAGCTTTGGAGGATTTCACTCT,C>T,R>*,stop-gained,RAD51C
rs201620214,10,+,43120146,CTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTT,G>A,S>S,synonymous-codon,RET
rs774028495,13,-,51946439,CATCTCCCAGACAGAGGTGATCATCCGGTTTGCTTTCCAGACGTCCATCAC,C>T,R>W,missense,ATP7B
rs587780563,X,-,153932111,CAGTGCCTTGTTCCCCTGCAGTAACCGGGCCGCCCTGCACCTCTATTCCAA,C>T,R>W,missense,NAA10
rs763670293,5,+,90728720,CGTGTTGCATCAAAAACTCCCTGTCCGAGGTGTGCTGACCGTGGCCTTGTT,C>T,R>*,stop-gained,ADGRV1
rs750969198,2,-,178540145,CCTCAGGGTGCAGAATACAGGTTCCGCGTCCTAGCTTGTAATGCTGGTGGA,G>A,R>H,missense,TTN
rs757674263,13,-,101111216,CTTTTTTTTTCCTAGAGCTTGCACCCGACAGCGCATGCTGAGCGGATCATT,C>T,R>*,stop-gained,NALCN
rs1085307271,2,+,202520127,TATTTAAGTCTCCACACAAGTGACTGGGTAAGCTCTTGCCGTCTTGCTCAT,G>A,W>*,stop-gained,BMPR2
rs557317492,1,+,11974699,CGCTACAACTGTTCCATCCGAGCCCCAAGGAAGGGCTGGACCCTCATGCAC,C>T,P>L,missense,PLOD1
rs201196733_1,16,-,56497013,TATGGCTGATCATTCTAATTTGATCCGAAGTTTGCTGGTCGGAGCTGAGGA,C>T,R>*,stop-gained,BBS2
rs763187844,2,-,237396742,CTCAGGCTTTCCTACAACTCATGCCCAGCAGCAGCAAGCAGGTAAGAGCCA,C>T,Q>*,stop-gained,COL6A3
rs121917819_1,6,-,31116972,CAGTGGCCAAAGCGTCAGCTCCAACCAGCGTCCCTGTAGTTCGGACATCCC,C>T,Q>*,stop-gained,CDSN
rs397514749,11,-,66707731,GACGGACATCGTGGCCTACAGCGGCCGGGTGCAGGCAGTGGACGCCGTGGC,C>T,R>W,missense,SPTBN2
rs281874656,X,+,108586666,AACTATAGGAGAAAAAGGAAACATTGGGTTGCCTGGGTTGCCTGGAGAAAA,G>A,G>R,missense,COL4A5
rs387906850,15,+,67181441,CAGGAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGGGGTGGCT,C>T,R>W,missense,SMAD3
rs144292455,4,-,103656258,TACACCATTGTTGGAATTACTCTCTGGGGAGGAGAAATCCCAGGAGATACC,G>A,W>*,stop-gained,TACR3
rs312262762,15,-,44589312,GCTTATGCTACAGCAGTGTAAGACCCAGTATGAGCTGGGGAAGCTTTTACA,C>T,Q>*,stop-gained,SPG11
rs1085307480,10,+,28617747,ATTAAAAAATTTAAGATCTTTAGTCCGAGTATGTGAAATTCAAGCAACTTT,C>T,R>*,stop-gained,WAC
rs730881101,1,-,201364335,GAGCGGGCCGAGCAGCAGCGCATCCGGAATGAGCGGGAGAAGGAGCGGCAG,G>A,R>Q,missense,TNNT2
rs281875313,22,-,50064134,CTCCTGCTGCAGGCCGGCCTCAACACGGGCACCGCCATCCAGTGCGTGCGC,C>T,T>M,missense,MLC1
rs1229066957,7,+,143330826,ACCTACTTTGCTGTTCGGAACTACTGGAGAGGATTCTTTGCAGCCACGTTC,G>A,W>*,stop-gained,CLCN1
rs587779252,2,+,47801003,ACCAAGAAGGGCTGTAAACGATACTGGACCAAAACTATTGAAAAGAAGTTG,G>A,W>*,stop-gained,MSH6
rs786204715,19,-,12658428,GAGCTGAACAAGGCCAACCTCACCTGGTATTTGGGGAAACTGGGGAGCTTG,G>A,W>*,stop-gained,MAN2B1
rs1432807966,19,+,38585967,GATCATCGACGCTTTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGA,C>T,R>*,stop-gained,RYR1
rs864309727,4,+,145639497,TCACAGCAGGAAAAAGGAGTTAGCCCAGGTGCTTCTTCAGAAAGTATTACT,C>T,Q>*,stop-gained,MMAA
rs267607216,12,+,65245931,GCTTTTAAAGCATTGCATGGCTCTTGGTTTGATGGTAAGAAATTTGAGTAC,G>A,W>*,stop-gained,LEMD3
rs886041319,2,-,222232086,CCAGAGGGCGAAGCTCACCGAGGCCCGAGTACAGGTACTGTTGCCCAAACC,C>T,R>*,stop-gained,PAX3
rs747199032,9,-,36227271,CGTTGATCTTGGCGGGACGAACCTCCGAGTTGCAATAGTCAGCATGAAGGT,C>T,R>*,stop-gained,GNE
rs121918143_1,2,+,127426180,AGACCAAGAAGACCAAGTAGATCCGCGGCTCATTGATGGGAAGATGACCAG,C>T,R>W,missense,PROC
rs140353201,8,+,99467566,ACTGCTTGCTACGGGACCTGATACACGACATTCATTTGTTGTCTGTCTCCA,C>T,R>*,stop-gained,VPS13B
rs1085307984_2,3,+,122261714,TGGGCGGCCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATAT,C>T,R>*,stop-gained,CASR
rs780957825,11,-,17387211,ATCCTGGAAGGCGTGGTGGAAACCACGGGCATCACCACCCAGGCCCGCACC,C>T,T>M,missense,KCNJ11
rs727504224,2,-,144399311,TGAAAACATAGTCCCCAACAAAGCCGGAGTTTTTGTTGATAATAAAGCCCT,G>A,G>R,missense,ZEB2
rs369957508,15,-,64965394,AATGTACAAGCTGTATCCTAATGCCCGAAGAGCTCATCTGAAAACAGGAGG,C>T,R>*,stop-gained,SPG21
rs769676029,8,-,64596809,AACTGGAACCAGCAAATGTCCAGGCCGATTTTTTGCACTTATGGAAATAAA,C>T,R>*,stop-gained,CYP7B1
rs111033592,12,+,868046,CCTGGAAGCCCAAACTCACCACTTCCAACCCCTGCTGAGGACTGTTGGCCA,C>T,Q>*,stop-gained,WNK1
rs104894085,8,-,38144359,GTGGCTGCCCAAGAGCATCATCAACCAGGTCCTGTCCCAGACCCAGGTGGA,C>T,Q>*,stop-gained,STAR
rs80356559,X,-,101348553,GCAGCGCTTCCAGCAGCTGGTGCACCAGATGACTGAACTTTGTTGGGTGAG,C>T,Q>*,stop-gained,TIMM8A
rs757325789_1,1,+,45508823,CATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCG,C>T,R>*,stop-gained,MMACHC
rs869312132,1,-,100206621,TATTTTTTAGGCTTCTCATAACATTGGGATAGCAATGGATACTGAGCAGGG,G>A,G>R,missense,DBT
rs1057516465,22,-,50064120,CGGCCTCAACACGGGCACCGCCATCCAGTGCGTGCGCTTCAAGGTCAGTGC,C>T,Q>*,stop-gained,MLC1
rs121918185,7,-,65974701,ACTTGGCTCTGCTATCTCCTAGATCCGAGGGAAGGGCTTCGACTGGCCGCT,C>T,R>*,stop-gained,GUSB
rs201824781,2,-,38075234,AGGCGGCAGCTCCGGTCCGCGCCCCCGGGCCCGTTTGCGTGGCCACTGATC,C>T,P>L,missense,CYP1B1
rs121909077,6,-,35500032,CTCCTACACCCTCAACTTCCAAGGCCGGGTCACCCAGGCCTCAGTCAAGAA,C>T,R>W,missense,TULP1
rs397516013,11,-,47333231,CAGGATGTCGGCAACACGGAGCTCTGGGGGTACACAGTGCAGAAAGCCGAC,G>A,W>*,stop-gained,MYBPC3
rs1057516052,X,+,153725795,CCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTACTACCGGGTCAGCAA,C>T,Q>*,stop-gained,ABCD1
rs1057519880,19,+,49665875,GCCCCTATGCCCTTTTTTGGGTTTCCGGCCAGAGGCATGCTGGGAGCGTCA,C>T,R>W,missense,BCL2L12
rs1057524203,6,-,56615924,AGGCCTGGTTGATGAGGGGTTTGCCCAGCAGCTGCGACAGTGTGAATTAGT,C>T,Q>*,stop-gained,DST
rs878853949,13,+,48459780,AGAACATATCATCTGGACCCTTTTCCAGCACACCCTGCAGAATGAGTATGA,C>T,Q>*,stop-gained,RB1
rs104886177,X,+,108606883,ACGCACTGGCTTAGATGGGCTCCCTGGACCAAAAGGTATGGAGGCTGTCAC,G>A,G>R,missense,COL4A5
rs137853242,12,+,120999607,ATCCAGCACCTGCAGCCGGCCCACCGGCTCAGCGCCAGCCCCACAGGTGAG,G>A,R>Q,missense,HNF1A
rs777181377,1,-,152312668,ATCTGCAGTCAGAGACAGTGGACACCGAGGGTCCAGTGGTAGTCAGGCCAC,C>T,R>*,stop-gained,FLG
rs773464867_1,10,+,71812813,AGCAGCTGTCAAGCCTGATGATGACCGATACCTGCGGGCTGCCATCCAGGA,C>T,R>*,stop-gained,CDH23
rs746068882_1,17,-,6623016,GATGTTTGTCACTCAGTTTACTGACCGAGGGGAGCATCCACTTCCTGCTCG,C>T,R>*,stop-gained,KIAA0753
rs886038975,15,-,48420714,GTGCAGCTGCCCCCAGGGCTACCTCCAGCACTACCAGTGGAACCAGTGTGT,C>T,Q>*,stop-gained,FBN1
rs397514477,19,-,29708415,GAACTTCTCCCTCGAAGGCCCGCCACGATGACTATCATGGTGGAGGACATC,C>T,T>M,missense,C19orf12
rs121912606,3,+,94003764,GACTTGGGAGGTGGAATAAGAATTCGGGGAATCTGGAAGAATTACTATGCT,G>A,R>Q,missense,ARL13B
rs745983207,1,-,154926384,CCGCGTTGTAGCGTTGGAGCAGAGCCGACAGCAGCGGGGCTGGGTGTTCAC,C>T,R>*,stop-gained,PMVK
rs76296470,12,-,102894756,TGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGTAA,C>T,R>*,stop-gained,PAH
rs121909231_1,10,+,87961095,CAAAGCAAATAAAGACAAAGCCAACCGATACTTTTCTCCAAATTTTAAGGT,C>T,R>*,stop-gained,PTEN
rs781171206,2,-,178543276,AAAACCACTCTACGATGGTGGTAGCCGACTCACTGGATATGTTCTCGAGGC,C>T,R>*,stop-gained,TTN
rs387907298,17,+,50168562,CCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAACCC,C>T,R>*,stop-gained,SGCA
rs794726863,X,-,119870713,CACCCCGCGCTGCTATGTCTGTGACCAGCAGACCAATGGCGTCTTCAATCC,C>T,Q>*,stop-gained,RNF113A
rs147764579,15,+,42401752,CTGGTGGCCCTGATGCAGAAGAACCGGCGGAAGGACCGGAAGCTAGGGGCC,G>A,R>Q,missense,CAPN3
rs139729994_0,7,+,117614713,ACTCCAGCATAGATGTGGATAGCTTGGTAAGTCTTATCATCTTTTTAACTT,G>A,L>L,synonymous-codon,CFTR
rs121912596,2,+,210608527,TGACCGTTTTCATGGAACATCTAGCCGAATTGGTAGCTCTATGAAAAGTGT,C>T,R>*,stop-gained,CPS1
rs1064794302,2,+,47801123,AACTTTGATAAAAATTACAAGGACTGGCAGTCTGCTGTAGAGTGTATCGCA,G>A,W>*,stop-gained,MSH6
rs121909724,2,-,27312510,AATGGACTGTCAGCCCAGGACAACTGGGCCAAACTACAGCGGGTGAGCTGG,G>A,W>*,stop-gained,MPV17
rs781469274,5,-,13792128,GACAAAATTGGTGCCTCTGACACGCCGACTATGGCAGATGACCAAGATTAA,C>T,R>*,stop-gained,DNAH5
rs759311161,16,-,71575922,ATATAATGGCTATGCCCCATCCATCGGTAAGCTCCTCCTGAGACTCCATAC,G>A,G>S,missense,TAT
rs746877365_1,6,+,7579527,AAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGA,C>T,R>*,stop-gained,DSP
rs536758576,11,+,67611973,AGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGG,G>A,R>H,missense,NDUFV1
rs72658185,7,+,94421027,CATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGG,G>A,G>S,missense,COL1A2
rs1060502726,16,-,23626273,TCTCTTTGGAAAGCTCTGGATGCTTGGCAGTGGGAAAAACTTTATACCTGG,G>A,W>*,stop-gained,PALB2
rs139430866,3,+,158652154,ATTAAGGGCGGCGGCCACTGACCACCGGCAGGAGCTAATTGAATGTGTTGC,C>T,R>W,missense,GFM1
rs886039273,22,+,31901763,TCAGGCTTTGAACCCGAAACGTACTGGGATCGAATGCACCTCTTCCAGGAA,G>A,W>*,stop-gained,DEPDC5
rs121909503,2,+,232530131,ATGGTCAACCTGGTCTTCTACCTACCGGCTGACAGTGAGCCTCCAGGCCCC,C>T,P>L,missense,CHRND
rs35887507_0,11,-,5234193,CTCAGATTACTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTT,G>A,W>*,stop-gained,HBD
rs1064797184,14,-,23425005,CTGCAGAGACTCCCTGCTGGTAATCCAGTGGAACATTCGGGCCTTCATGGG,C>T,Q>*,stop-gained,MYH7
rs63750424,17,+,46024061,AGTGGTGTCTGGGGACACGTCTCCACGGCATCTCAGCAATGTCTCCTCCAC,C>T,R>W,missense,MAPT
rs12735723,1,+,161169143,GGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCA,C>T,P>L,missense,PPOX
rs1060501114,3,-,38585842,AGCGACTCAGGCCTGCTGCCTCGCTGGCACATGATGGACTTCTTTCATGCC,G>A,W>*,stop-gained,SCN5A
rs767241917,12,-,23740971,TATGATCAACCAGCTGACCAGCCTCCGAGAGCAGCTGTTGGCTGCCCACGA,C>T,R>*,stop-gained,SOX5
rs1114167307,13,-,20143233,TTAGAAAATGCACAGGAGCACTCCACGGTCATCGGCAAGGTTTGGCTGACC,C>T,T>M,missense,GJA3
rs1060500759,10,+,43120162,GAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTA,C>T,R>*,stop-gained,RET
rs879255056,19,+,11120105,CTGCCTGTTTAGGACAAAGTATTTTGGACAGATATCATCAACGAAGCCATT,G>A,W>*,stop-gained,LDLR
rs786204634,1,+,21570321,TCCTCCTAGCACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTT,G>A,W>*,stop-gained,ALPL
rs770689762,22,-,17182696,TCTGATGCTGAACACTACCAGAATCGGCCATGGATTTGCTTTGAGCAAACA,G>A,G>S,missense,ADA2
rs111033201,11,+,77174825,AATGATGGAGACCATCCGAATCCGCCGAGCTGGCTACCCCATCCGCTACAG,C>T,R>*,stop-gained,MYO7A
rs1057519952,3,-,49375577,TTGTGTTTCAGCAATGGCTGCCATCCGGAAGAAACTGGTGATTGTTGGTGA,C>T,R>W,missense,RHOA
rs757532106,3,-,38550500,CTACGTGATGAGTGAGAACTTCTCCCGACCCCTTGGCCCACCCTCCAGCTC,C>T,R>*,stop-gained,SCN5A
rs5030846,12,-,102852930,CCCAGCTTGCACTGGTTTCCGCCTCCGACCTGTGGCTGGCCTGCTTTCCTC,C>T,R>*,stop-gained,PAH
rs28937873,15,+,71813573,CTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCCCACGGAG,G>A,R>Q,missense,NR2E3
rs200275281_1,19,+,39504079,CTCTCTGTCCCCCATAGTGGTGTGCCGAGCAGGCTGCAGCCCTGAGCATGG,C>T,R>*,stop-gained,DLL3
rs397516317,11,+,77204141,ACGCTCCGTCAACGAGCTCACCGACCAGATCTTTGAGGGTCCCCTGAAAGC,C>T,Q>*,stop-gained,MYO7A
rs540169523,22,+,41524913,CCAGAGACCGACTACCTGACGGGCACGGATGGCAAGAAGTTCAGGCTGGAG,C>T,T>M,missense,ACO2
rs128621201,X,-,101356060,CCTGGAGTCAAAGCAGTTCCTTCACCGAGACCTGGTGGGACCTTAGAAGGA,C>T,R>*,stop-gained,BTK
rs794729285,2,-,178571794,ACTACTGACAATAAAGGACGCCTGCCGAGAAGATGTTGGCCATTATGTGGT,C>T,R>*,stop-gained,TTN
rs267606836,X,-,154534438,CGGGAGGGACCTGCAGAGCTCTGACCGGCTGTCCAACCACATCTCCTCCCT,C>T,R>W,missense,G6PD
rs137852996,1,-,197144049,TAACTGGACACCACTCAAAGAAGGCCGAGTAAGAGAGATTATGACATTTCT,C>T,R>*,stop-gained,ASPM
rs267607995,2,+,47476408,TAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAAT,G>A,G>R,missense,MSH2
rs1057516910,6,-,73615410,TCTTCATTGCCTTATTTAGGCTCTTGGTTATGTATGATCCTGTCTGGTCAA,G>A,W>*,stop-gained,SLC17A5
rs587784148,5,+,177269729,TGACTATTTGTGGACTCACCAGGCCCGAGTCTTCCCTTACATGGAGGGTGA,C>T,R>*,stop-gained,NSD1
rs11555217,11,-,71441401,TATCAGATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCTGGTTT,G>A,W>*,stop-gained,DHCR7
rs267607490,2,+,219425734,GGTGATGATCAAGACCATCGAGACACGGGATGGGGAGGTAAGTGGTCTGTC,C>T,R>W,missense,DES
rs387906874,10,+,119669881,TCCATCCTCTGCCAATGGCCCTTCCCGGGAGGGCTCTAGGCTGCCGCCTGC,C>T,R>W,missense,BAG3
rs587783792,X,+,150660437,AATTTTGGATCATCTGTATAGTTGCCGATTTGGTACTTTCTTATTCAACTG,C>T,R>*,stop-gained,MTM1
rs121434547,15,+,42392649,GTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCC,C>T,P>L,missense,CAPN3
rs202218890,2,+,71569884,GGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTA,C>T,R>W,missense,DYSF
rs45515894,16,+,2062561,TCCATCCACCCGGCCAAGGACGGCTGGATTCAGAACCTGCAGGCGCTGATG,G>A,W>*,stop-gained,TSC2
rs1057518571,12,-,49040359,ATTTGCCCCATTGCATAAGCCACCCCGACCCCAGCCCCCTGAAGTTGCCTT,C>T,R>*,stop-gained,KMT2D
rs546603773,19,+,50791780,CGCTGGAGGCCGATCCCGGTGCACACGGTGCCCGTGGCTGAGGATAAGGTC,C>T,T>M,missense,ACP4
rs144332569,17,-,6703031,GTGCATCTGCTACGCGGCCAGCATCGGGGGCACCGCCACCCTGACCGGGAC,G>A,G>R,missense,SLC13A5
rs780318765,5,+,170019037,GACACTTATCCCTGAGGCTGAGCTCCGGAAAGCCACCATACCAATCTTCTT,C>T,R>W,missense,DOCK2
rs144583275_1,11,-,66872108,GGGCCTGAGGCTCCTGGGAATCCGCCGAACCTCCACCGCCCCCGCTGCCTC,C>T,R>*,stop-gained,PC
rs397516435,17,-,7674945,TCTGGCCCCTCCTCAGCATCTTATCCGAGTGGAAGGAAATTTGCGTGTGGA,C>T,R>*,stop-gained,TP53
rs113993971,10,+,122508758,AAAGTTCCTCACGGAGTCCCATGACCGACAGGCCAAAGGTAGGCAAGGCCC,C>T,R>*,stop-gained,HTRA1
rs80356601,2,-,26466018,AAAGCTGACCCCTACATCGCCATCCGGCTAGGCAAGACTGACATCCGCGAC,G>A,R>Q,missense,OTOF
rs1131691093,17,+,31338035,ATCTTTTAATTGCAGATTTGCATTCCAATATAATCCATCCCTGCAACCAAG,C>T,Q>*,stop-gained,NF1
rs137852561,X,-,49191730,CTTCCTGAACCTGGTGCTCTGGGTCGGCAACCTGTGGTTCGTGTTTAAGGA,G>A,G>S,missense,SYP
rs141322087,11,-,17404552,CGTGGCCCTCTTGCCCCTGGCCATCGTGTGCTACTTCATCCAGAAGTACTT,G>A,V>M,missense,ABCC8
rs770590394,17,+,80110736,GCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCAC,G>A,G>R,missense,GAA
rs121434420,12,-,32879021,TTGCTTGATTGCAGGAAATCTTCACCGAACCAGCAGTGTTCCTGAGTATGT,C>T,R>*,stop-gained,PKP2
rs104893642,2,-,226796916,CGCCCAGACAGCTCCACCCTCCACACGGATGATGGCTACATGCCCATGTCC,C>T,T>M,missense,IRS1
rs886039552,22,-,38169219,CCCCAGGAACTCACAGAGTGGATTCCGGTGGGTGATGCTCAGCGGGAACAT,C>T,R>*,stop-gained,PLA2G6
rs1489993984,11,+,68047543,CCTGGCCATGGTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAA,C>T,R>*,stop-gained,TCIRG1
rs1057518637,13,+,32336621,ATACAGTGATACTGACTTTCAATCCCAGAAAAGTCTTTTATATGATCATGA,C>T,Q>*,stop-gained,BRCA2
rs786205554_1,21,+,45493561,CGACGGCGGTGCCCTGGGCCCTGCCCAGAAAGGAGCCAAGGTGAGGGCCGG,C>T,Q>*,stop-gained,COL18A1
rs139228801,1,-,115705208,GATCTGAGCATCCTGTGGATCGACCCGGACGACTTTCCTCTGGTGAGTGGC,C>T,P>L,missense,CASQ2
rs118204031,22,+,37725905,CCCTGCACCTGTGTGTATTGGGTACCGAGATGCACCCCGGGCCTCCTCCCC,C>T,R>*,stop-gained,TRIOBP
rs119481077,9,-,96254907,TGGACTCAATGTTGTCCTTATTAGCCGGACGCTGGAAAAACTAGAGGCCAT,C>T,R>W,missense,HSD17B3
rs200133991,19,-,29708290,GGTCACAGGGGCCATGGCCTTCGTCGGGGGTTTGGTGGGCGGCCCACCGGG,G>A,G>R,missense,C19orf12
rs80359148,13,+,32379765,CTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCT,G>A,W>*,stop-gained,BRCA2
rs137852990,2,+,43852692,TTGTCCAGGCTGGCCAAAGGCAACCGGCTGGTGCTCATCTCCCTCCACCAG,G>A,R>Q,missense,ABCG8
rs182657062,16,-,89739517,GGGCGGCTCCTCCTCCGTGTGGCCCCGGATCAGCACACCAGGCTGCTGCCT,C>T,P>L,missense,FANCA
rs1057516367,17,+,42900955,CCTCCAGGTGAATTACCAAGACTCCCAGGACTGGTTCATCTTGGTGTCCGT,C>T,Q>*,stop-gained,G6PC
rs1057517423,11,-,2167909,GGGCTTCTCGGACCAGGTGTACCGCCAGCGCAGGAAGCTGATTGCTGAGAT,C>T,Q>*,stop-gained,TH
rs1057516036,7,+,94423065,CCGAACTGGAGAAGTAGGTGCAGTTGGTCCCCCTGGCTTCGCTGGTGAGAA,G>A,G>S,missense,COL1A2
rs774396430,7,+,143330897,GCTGGCAGTGTGGAACAAGGATGCTGGTAACCAAGGAGGCCTTGGGTGGAG,G>A,V>I,missense,CLCN1
rs45516091,14,-,23431608,GGCCTTTGGCAATGCCAAGACCGTCCGGAACGACAACTCCTCCCGCTTCGT,C>T,R>W,missense,MYH7
rs867288458,X,+,107645287,GTGCTTGTGGGAGATGTGAAGGATCGGGTGGCCATCCTTGTGGATGACATG,G>A,R>Q,missense,PRPS1
rs876658235,17,+,31235988,CGAATTGTGATCACATCCTCTGATTGGCAACATGTTAGCTTTGAAGTGGAT,G>A,W>*,stop-gained,NF1
rs1057519563,11,-,9160835,GAGGATGCTGGTGGAAAAGATGGGCCGAGAAGCTGTGGAGCTAGGGCATGG,C>T,R>*,stop-gained,DENND5A
rs137852227,X,+,139537144,AGAAAAGTGTAGTTTTGAAGAAGCACGAGAAGTTTTTGAAAACACTGAAAG,C>T,R>*,stop-gained,F9
rs1131690865,13,+,48459831,ACTCATGAGAGACAGGCATTTGGACCAAGTAAGAAAATCAAGCACTTCACC,C>T,Q>*,stop-gained,RB1
rs1131692297,11,-,31801653,TCCAGAAGTTGTAAGCAAAATAGCCCAGTATAAGCGGGAGTGCCCGTCCAT,C>T,Q>*,stop-gained,PAX6
rs1060499696,2,+,227273090,TCTCCAGGGCACGCAAGGAGTTCCTGGAGCCCCCGGACCACCCGGAGAAGC,G>A,G>R,missense,COL4A3
rs387907053,11,-,124924890,GCAGTCCATTGGCACAGAGGTCATCGGCACCCTGCGGCCTGACTATCGAGA,G>A,G>S,missense,HEPACAM
rs80356534,19,-,41978041,ATGGTCACCGGCGATCACCCCATCACGGCCAAGGCCATTGCCAAGGGTGTG,C>T,T>M,missense,ATP1A3
rs151344517,18,-,12337505,TCAGTTTGGCATGAATGAAAAGGTTGGGCAAATCTCCTTTGACCTCCCACG,G>A,G>R,missense,AFG3L2
rs201016593,19,+,11089559,GCAGAGGCTGCGAGCATGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTC,G>A,W>*,stop-gained,LDLR
rs867587467,17,-,63971173,GTGCTGCGGGCCCTCAAAACCATCACGGTCATCCCAGGTACTGGGGAGGTG,C>T,T>M,missense,SCN4A
rs398124092,X,-,31223071,AGCTTATAGGACTGCCATGAAACTCCGAAGACTGCAGAAGGCCCTTTGCTG,C>T,R>*,stop-gained,DMD
rs137852862_1,7,+,40188569,AAGTACATATTATCTCAGTGTTAACCGAAATAAAAAAGTAAGAATATCATC,C>T,R>*,stop-gained,SUGCT
rs121908866,14,+,81143695,GCATGTGCCATCATGGTTGGGGGCTGGGTTTGCTGCTTCCTTCTCGCCCTG,G>A,W>*,stop-gained,TSHR
rs200532368_1,14,-,87986552,TTATGCACTAGATGAGAATTATTTCCGAGGATACGAGTGGTGGTTGATGAA,C>T,R>*,stop-gained,GALC
rs751025203,9,-,6565392,AGAATATGCTGGACTGGCCACTATCCGAGCCTACTTAAACCAGAAAGGAGA,C>T,R>*,stop-gained,GLDC
rs773446161,15,-,72356555,CTCTGTAGTCACACCTGGATGTAACCAGCTTCCTACTTTGGAGTCAGTGGA,C>T,Q>*,stop-gained,HEXA
rs142908436_1,3,-,49722057,GGTGGTCGAAGATGGTGTGTGTATCCGGCGGTGCACGGTGCTGCGGGATGC,C>T,R>W,missense,GMPPB
rs794727069,3,+,193643431,CAGAGGATGGTGCTTGTTGACTTACCAGGTGTGATTAATGTAAGTATATAC,C>T,P>L,missense,OPA1
rs60612575,12,+,52302269,ATCAAGTCCCTCAACAGCAGGTTCGCGGCCTTCATCGACAAGGTGGGTGTC,C>T,A>V,missense,KRT86
rs864309503,22,-,30941503,TGCCGCTGTGCTCTATATTGATCCCCGGATGAGGATCTTCATCCATGGGCA,C>T,R>W,missense,MORC2
rs201118996,2,-,30924226,GTCCTCCATCCAGAAGGGCAATATCCGACAGAGACAGAAGTGCCTGGAATC,C>T,R>*,stop-gained,GALNT14
rs587777071,13,-,85795968,TGAGAGTCTTCCTCCAAACATCTTCCGATTTGTTCCTTTAACCCATCTAGA,C>T,R>*,stop-gained,SLITRK6
rs786201856,5,+,112815507,GCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGT,C>T,R>*,stop-gained,APC
rs104894814_1,X,+,71224365,CCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACC,C>T,R>*,stop-gained,GJB1
rs121909296_0,5,+,156344574,GTATACAAGGTGGGGATTTATGGCTGGCGGAAACGATGCCTGTATTTCTTT,G>A,W>*,stop-gained,SGCD
rs137852923,1,-,5904788,TGGATTCAGAGTGGCCCAGGACTGCCGAGGAACATCATGGCCAAAGACTGT,C>T,R>*,stop-gained,NPHP4
rs761071115_1,22,-,33650492,CCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCACTCCAAGACCTACTC,C>T,R>*,stop-gained,LARGE1
rs397514487,3,-,52149850,GGGACACCTGCTTGCTTCCGGCTCCCGAGACAAGACTGTCCGCATCTGGGT,C>T,R>*,stop-gained,POC1A
rs1064793916,3,-,48568137,AGGAAAGGATGGAGTGCCTGGTATCCGAGGAGAAAAAGGAGATGTTGGCTT,C>T,R>*,stop-gained,COL7A1
rs80338843_2,11,+,112087916,TCATATCTCAGCATTTCTTCAGGACCGACCTATCCCAGAATGGTGTGGAGT,C>T,R>*,stop-gained,SDHD
rs751746401,2,-,178617857,GGTAGAAGGACAGGAGTACAGTTTCCGAGTGAGAGCCCAAAATCGAATTGG,C>T,R>*,stop-gained,TTN
rs754855261_0,19,+,13927028,CATCAACCGCAGCCACCGTGGCTTCCGAAGGGCCATCCAGACCAAGGGCAT,C>T,R>*,stop-gained,CC2D1A
rs375002796,7,+,76058047,ACCGCTGCCTGTGCCCAGCACTGCCCGGAAGCCATGATCTGCGTCATTGCC,C>T,P>L,missense,MDH2
rs766458058,2,-,237357834,GGAGAGAGGACCCAAAGGAGAAACCGGTGACCTCGGCCCCATGGTAAGGTG,G>A,G>S,missense,COL6A3
rs750030887,17,+,80108305,TCCCTTCCAGATGTGGTCCTGCAGCCGAGCCCTGCCCTTAGCTGGAGGTCG,C>T,P>L,missense,GAA
rs121912739,9,+,35800427,GGTTGTCATGGACAAGAACAATGACCGAGAGACTGACTTTGTCCTCTGGGC,C>T,R>*,stop-gained,NPR2
rs193922157,17,-,50198459,TTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCAT,G>A,G>R,missense,COL1A1
rs74315290,1,-,167439355,CCCCGCGTACCAGCAGGGCCAGAACCAGCTCTATAACGTAAGTCAGCCTCG,C>T,Q>*,stop-gained,CD247
rs104894455,14,+,20472366,ATGGCTTCTGTCTCACACTAAGCACCGACCTCAAGTTGCAATAATCTGTGG,C>T,R>*,stop-gained,PNP
rs757966746,20,-,34294083,GCTGCCATTGCCAAGGCTGGCATTCCGGGTAAGTCCTGCTTGCTTCTGAGA,C>T,P>L,missense,AHCY
rs367570129,1,-,95027239,CTAGTATACCAAATACTACATTCACCGAATTCCAAGAAGCCGGGAGGTTCA,C>T,P>L,missense,ALG14
rs1131690813,16,+,68829669,TTCTCCAAAGGACTTTGACTTGAGCCAGCTGCACAGGGGCCTGGACGCTCG,C>T,Q>*,stop-gained,CDH1
rs863223980,1,-,241517310,GTTGTATTCTTGTCTTTAGGCAAGCCAAAATTCCTTCCGGATAGAATATGA,C>T,Q>*,stop-gained,FH
rs747727055,11,+,108245000,CAACTGCAAATTTATATCCATCATCCGAAAGGAGCCAAAACCCAAGAAAAA,C>T,P>L,missense,ATM
rs267607046,5,-,172422445,CAGCGGCTCCACCGAGGCCATTTACCGGCGCTACAGCAAGTTTTTTGACCT,C>T,R>W,missense,SH3PXD2B
rs1025515771,1,-,5904749,GCCAAAGACTGTGTATTTCACCTTCCAGTTCTACCGCTTCCCACCCGCAAC,C>T,Q>*,stop-gained,NPHP4
rs121917850,8,-,63064294,AAGGATTCATTTCCATTGAAAGTTCGTGGCATCCATTTGATAAATGAACCA,G>A,R>H,missense,TTPA
rs1060501109,10,+,102550088,CGCAGAGTTAATGCAGGGCTTGGCACGATACGTGTTCCAGTCAGGTAGGAG,C>T,R>*,stop-gained,SUFU
rs397514579,16,+,29813802,TAGCCTGAGCCGCCACCCCAGCTCCCAGTTGGCAGGTCCTGGGGTGGAGGG,C>T,Q>*,stop-gained,PRRT2
rs199469662,4,-,150828304,AAACGTCAATGTGAAAGACATTCTCCGAAGCTTGGTTAACATACCAGCAGA,C>T,R>*,stop-gained,LRBA
rs773107808_1,1,+,70432151,TCGAGGTCTGAAGACTCTACATGTCCGAATGGAAAAGCATTTCAAAAACGG,C>T,R>*,stop-gained,CTH
rs794726912_1,8,-,144517703,ACGGCAGCGCGGGCGGCGACCGAGCCAGGTGCGGGCTGCCCAGGGGCCGAG,C>T,Q>*,stop-gained,RECQL4
rs876657698,3,+,69959284,CATTTTCATCGCAGAGACATGCGCTGGAACAAGGGAACCATCTTAAAAGCA,G>A,W>*,stop-gained,MITF
rs145665129,16,-,53645895,AAGATGTTGCAACCACCTGCAGTCCCGAGCAAGCCACCTGCAGCCACACCC,C>T,R>*,stop-gained,RPGRIP1L
rs66664580,17,-,50195967,TCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCC,G>A,G>S,missense,COL1A1
rs121907900,11,-,32392020,TAAAACTTGTCAGCGAAAGTTCTCCCGGTCCGACCACCTGAAGACCCACAC,C>T,R>W,missense,WT1
rs267606749,21,+,46121590,GGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCC,G>A,R>H,missense,COL6A2
rs151340616,3,-,48862581,GAAGCTGTACCAGGAGTTTGGGATCCGAGGCATCTACAAAGGGACTGTGCT,C>T,R>*,stop-gained,SLC25A20
rs387907297_0,3,-,133973750,GCACCGTCCACGTCTGATTGGCATCGGAGGTCTCTTCCTGGCTGCAGGTGC,G>A,G>R,missense,SLCO2A1
rs199422153,1,-,197125073,CATTGTTCTTCAAGTTCTTAAATCACGAGGAATTGAATTAAGTGATGAGCA,C>T,R>*,stop-gained,ASPM
rs137852216,X,-,64192230,GGCCTCTGGGGGCCAGAGAGCAAACCGAGATGGGACCAAGCGAAGTTCCTG,C>T,R>*,stop-gained,AMER1
rs201257588,16,+,2496206,CAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAG,C>T,Q>*,stop-gained,TBC1D24
rs886044747,1,-,94019589,ACCTACTGGGTGACCAACTTCCTCTGGGACATCGTAAGTGTCAGTTTACAG,G>A,W>*,stop-gained,ABCA4
rs104894675,19,+,39504130,CTTCTGTGAACAGCCCGGTGAATGCCGATGCCTAGAGGGCTGGACTGGACC,C>T,R>*,stop-gained,DLL3
rs179363889,21,+,44297705,TGGGCCATCCAGAGCATGGCCCGTCCGGCGGCCCCCTTCCCCTCCTGACCC,C>T,P>L,missense,AIRE
rs587777698,12,+,6944607,CGTGCTGCCCGTGGCCACGCAGATCCAGCAGGAGGTTATCAAAGCCTATGG,C>T,Q>*,stop-gained,C12orf57
rs80338835,22,-,36282754,GGACCTGCCGTTTGTCGTGCCCCGCCGAATGGCCCGGAAAGGCGCCGGGGA,C>T,R>*,stop-gained,MYH9
rs113994168,17,+,7222203,AATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACA,C>T,T>M,missense,ACADVL
rs193922879,19,+,38580382,ATCCTGCCCCCAGCTGGTGATGACCGTGGGCCTTCTGGCGGTGGTCGTCTA,G>A,V>M,missense,RYR1
rs587779750,19,+,11034171,CGAGACCGTCAACCAGATGATCGCCCGGCACGAGGAGGAGTTTGATCTGTT,C>T,R>W,missense,SMARCA4
rs752175052,14,+,21345145,CCTGGACCCACAGGAGCAGCAAGGCCGAAGGCGGTTTCTGTTCGACATGCT,C>T,R>*,stop-gained,RPGRIP1
rs80356485,17,+,42911076,CCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATG,C>T,Q>*,stop-gained,G6PC
rs397515460,3,-,50342047,GGCCCATCTGACCCTAACTGAAACCCAGCCTCCTAAGAAGGACCTGGTGTT,C>T,Q>*,stop-gained,ZMYND10
rs879254578,19,+,11105477,GCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGC,C>T,Q>*,stop-gained,LDLR
rs797045915,7,-,103557992,AGATTGTACAAATACAATGTATGTCCAGTTTTCACTTAGATTTATAGCAAA,C>T,Q>*,stop-gained,RELN
rs774795340,3,-,133953723,CATCTCTGTATTTGGACCGGCTTTCGGGTACCTGCTGGGCTCTGTCATGCT,G>A,G>R,missense,SLCO2A1
rs774801990,12,+,45893663,AGAGGGACCAATAACTAAACACATCCGACTAACAGCTGCCTTAATATTAAA,C>T,R>*,stop-gained,ARID2
rs397515389,1,-,145925920,CTGCTTCTTTTTCCCTAGAGGTGGCCGAAGACGCAGCAGAAGTCCAGACCG,C>T,R>*,stop-gained,RBM8A
rs1452558347,14,-,77277432,TTACGGGATGGTTGGTCCCCTGGCCCAGGACCCCCAAAGTCCAATGGCAGG,C>T,Q>*,stop-gained,POMT2
rs1114167474,11,-,64805756,TGCTCTCACAGCTACAACTACTGCCGGGAAGACGAGGAGATCTACAAGGAG,G>A,R>Q,missense,MEN1
rs121912981,9,-,113389085,GCAGCACCCTGACCTCCCTCTCGCCGTGTACCACGTCTCTGGAGAGTTTGC,G>A,V>M,missense,ALAD
rs1057520571,15,-,68218567,TGGTTCTACTTCACACTGCAGAACTGGGTTCTGGACTTTGGGCGTCCCATT,G>A,W>*,stop-gained,CLN6
rs763822931,2,-,178566970,AATGAAAAATCCATTTGTGCTTCCTGGACCACCAAAAAGCTTGGAAGTCAC,G>A,G>R,missense,TTN
rs137852350,X,+,123482856,GGCAGGCGTTTTCTATATACTTGTCGGAGGTCTGGGGCTGGCCATGATGGT,G>A,G>R,missense,GRIA3
rs137853013,3,+,130969385,GTGGATGGCTGTTAAGTGTGTACACCGAACACAGCAGGTATCCATCTGTTT,C>T,R>*,stop-gained,ATP2C1
rs727504235,11,-,47333742,TTTTCCTCCCCTCAGGGCAAGCCCCGGCCTCAGGTGACCTGGACCAAAGAG,G>A,R>Q,missense,MYBPC3
rs878854400,2,+,176093632,CAGCCAGGTGTACTGCACCAAGGACCAGCCACAGGGGTCCCACTTTTGGAA,C>T,Q>*,stop-gained,HOXD13
rs778336949,17,-,80217060,TCGGTCAGCAGCTGCTCTCCCAGCCGCGCCAGCCTCCTCACTGGCCTGCCC,G>A,R>H,missense,SGSH
rs760715690,6,-,152149542,CATCGAGGAGGAACTAGATGAGCTCCGACGGTACTGCCAGGAGGTCTTCGG,C>T,R>*,stop-gained,SYNE1
rs747622607,5,+,90848679,AATTCAAGCTTTCAGTGTTGCCAGCCGAACTCTTTTCTATGAGATTCTTTG,C>T,R>*,stop-gained,ADGRV1
rs121908921,2,-,166306531,ATATTTATGACCATGAATAACCCACCGGACTGGACCAAAAATGTCGAGTAA,C>T,P>L,missense,SCN9A
rs28897756,13,+,32379913,AAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTT,G>A,P>P,synonymous-codon,BRCA2
rs758163506,17,+,19382063,GCAGCCCCAGCCCTCACCTCTGTGCCGGCCCCTGCCCCAGCGCCAACGCCA,C>T,P>L,missense,MAPK7
rs387907024,7,+,141615564,CTTTGCCGAAAGTGGAAACAAAGTCCAGTAGGTTGTCAATGTGGGGAATTA,C>T,Q>*,stop-gained,AGK
rs1131692200,19,+,11106675,CTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCC,G>A,G>S,missense,LDLR
rs1114167709,2,+,47799952,TGATGGCATTGGGGTGATGTTACCCCAGGTGCTTAAAGGTATGACTTCAGA,C>T,Q>*,stop-gained,MSH6
rs74315386_0,20,-,35434514,GGTGTTCGACATCTGGAAGCTCTTCCGAAACTTTAAGAACTCGGCCCAGCT,C>T,R>*,stop-gained,GDF5
rs74315386_1,20,+,35434514,AGCTGGGCCGAGTTCTTAAAGTTTCGGAAGAGCTTCCAGATGTCGAACACC,G>A,S>S,synonymous-codon,GDF5OS
rs527236206,M,+,15148,CAGCCTTCATAGGCTATGTCCTCCCGTGAGGCCAAATATCATTCTGAGGGG,G>A,P>P,synonymous-codon,CYTB
rs139328569,11,-,17430839,GCTGTTCCTGCTGTCCAGTGTGGTCCGATCTACCGTCAAAGCTCTAGTGAG,C>T,R>*,stop-gained,ABCC8
rs972964381,13,-,101143190,TTTTATGAAGCAGTTTATTGACCGCCAGCAACAGGACACATGTTGCCTCCT,C>T,Q>*,stop-gained,NALCN
rs1416783446,10,+,72008343,CTTCAGCATGCCCTTCAAGCTGGCCCAGGTGGTGCAGGCCGCCTGCGGCCC,C>T,Q>*,stop-gained,CHST3
rs137852998_1,17,+,74299780,GCTATCCACCATTGAGTCCAGCCACCGAGACCCTGTGTATGGCACCATCTG,C>T,R>*,stop-gained,DNAI2
rs128621204,X,-,101353936,CTCAGTAGGCTCCAAATTTCCAGTCCGGTGGTCCCCACCGGAAGTCCTGAT,C>T,R>W,missense,BTK
rs767006508,2,+,74532714,GTCATCCTGGGCTCCCCTGCACACCGGTGAGGGAGAGGCTGCAGTGTGATA,G>A,R>Q,missense,HTRA2
rs121908810,7,+,117592457,CAGCACTGGCCCCACGCTTCAGGCACGAAGGAGGCAGTCTGTCCTGAACCT,C>T,R>*,stop-gained,CFTR
rs118204030,22,+,37725758,ACCACCTGCTGTGTGCATTGGACACCGAGATGCCCCCCGGGCGTCCTCGCC,C>T,R>*,stop-gained,TRIOBP
rs121918754,2,-,166037787,TGTCTTCATGATGGTCATGGTGATTGGAAACCTAGTGGTATGTACCCACTT,G>A,G>R,missense,SCN1A
rs137852399,X,-,154969508,GAAATCAGTCTATTGGCATGTGATTGGAATGGGCACCACTCCTGAAGTGCA,G>A,G>R,missense,F8
rs786204796,12,+,121627039,CAGCCGGACCTCGGCTCTGCTCTCCGGCTTCGCCATGGTGAGCTCCGGCCG,G>A,G>S,missense,ORAI1
rs397509417,4,+,183701783,AAATATTGAAGGTGGAGTAGCAACCGGGCATTATATTATCTCTTGGAAAAG,G>A,G>R,missense,TRAPPC11
rs137852758,18,+,23939322,GACCCAGGCCAATCATGGAGCCCTCCAGTTTGGGGACATTCCCACCAGCCA,C>T,Q>*,stop-gained,LAMA3
rs786204626,19,+,12897825,ATTTCTGACGAGTATCACGTGATCCGGCACGCCATGAACCTGGAGGCCGTG,G>A,R>Q,missense,GCDH
rs532190594_1,11,+,108140107,TACAGCAAAGAAGCTGAATATTGCACGAAATGAACAGGACGCTTATGCTAT,C>T,R>*,stop-gained,ACAT1
rs139484231,21,-,42388523,TTTCTTTCTGCACATCGGCCAGTCCGGGTGGGTGGTCAGAATGCCGTGCTC,G>A,R>Q,missense,TMPRSS3
rs104894829,X,-,101407773,TTGGCAAGGACGCCTACCATGGGCTGGCTGCACTGGGAGCGCTTCATGTGC,G>A,W>*,stop-gained,GLA
rs121434263,1,+,193122328,AATGTGAAGACCAACTATGTTGTTTGGGGGTAAGTCCGGCATGGCTGTGGC,G>A,W>*,stop-gained,CDC73
rs886039574,9,+,126615470,CTGATGCGAGTCAACGAGTCGTCCTGGCACGAGGAGTGTTTGCAGTGCGCG,G>A,W>*,stop-gained,LMX1B
rs774026652,16,-,89791495,GATGGCCCAGGCATTCGAGAGCTGCCAGCTGGACAGCATGGTCACTGCGTT,C>T,Q>*,stop-gained,FANCA
rs577890523,3,-,57105928,CTTCGACCATGCACCGCACAACTTCGGCTTCCGTTTCTTCTATCTTCACTA,G>A,G>S,missense,IL17RD
rs1456300819,7,+,158926213,TGGAATCCTTACCTCAGTAAACCACCGAAGCCCTCTTCAAGCAGTAGAACC,C>T,R>*,stop-gained,WDR60
rs199474676,11,+,36575399,AATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGG,C>T,R>W,missense,RAG1
rs113993959_0,7,+,117587778,TGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGG,G>A,G>R,missense,CFTR
rs776015412,15,+,40410690,TGTGCTGGTGATGGAGGAGATATCCCGAGCTTCCGGAGCAGTGGGGCTCAG,C>T,R>*,stop-gained,IVD
rs797045495,16,-,3731337,CTCACCCTCGCCAGAGACAAGCACTGGGAGTTCTCCTCCTTGCGCCGCTCC,G>A,W>*,stop-gained,CREBBP
rs121908452,2,-,108897182,ATTTGATTGCCTCGAGAAGACTAGCCGAATGCTCAGCTCCACGTACAACTC,C>T,R>*,stop-gained,EDAR
rs121912571,4,-,148154899,TTATCATTTATGGTTTCTTATAGCACGAAAGTCAAAGAAGTTGGGAAAGTT,C>T,R>*,stop-gained,NR3C2
rs886038766,15,-,48596295,ATGCACTTACGGATTTACTGGACCCCAGTGTGAAAGAGGTAATGGTTTTTA,C>T,Q>*,stop-gained,FBN1
rs557166582_1,2,-,108929262,TCACAAAGACTGTGAGGGCTTCTTCCGGGCCACCGTGCTGACACCAGGGGA,C>T,R>W,missense,EDAR
rs121918033,6,+,160752240,CGAACTCTGTGCTGGGCATTTGGCCGGAGGCACTGACAGTTGCCAGGTAAG,G>A,G>R,missense,PLG
rs137852612,21,-,44901728,CCCCTCCATGTGCCCTGCAGGCTTCGGGTCCTTCGTGGACAAGACCGTGCT,G>A,G>R,missense,ITGB2
rs869025610,10,-,47607,GCCGTGAACATGGTCCCGTTTCCCCGGCTGCATTTCTTCATGCCCGGCTTT,G>A,R>Q,missense,TUBB8
rs121908498,11,+,20626721,TGGCTTTTCTAGGTGGTGTACTTCACGGCCACGTTCCCGTATGTCGTACTC,C>T,T>M,missense,SLC6A5
rs1064794741,18,+,11881049,CTGCTACCCGCACTTCACCTGCGCCGTGGACACAGAGAACATCCGCAGGGT,G>A,V>M,missense,GNAL
rs61753229,6,-,42965717,GAACTGGACTCTTTGGCCCCAAGCCGGGGGCGAAGTGGAGATTCTGGAGGA,G>A,R>Q,missense,PEX6
rs200712908,11,+,112233434,GTTTTTGTTTTTTTTTCTTATAGCACGACTGAAAATGTAGCTGTTTATATC,C>T,T>M,missense,PTS
rs886037750,19,-,7267603,CGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCAC,G>A,G>S,missense,INSR
rs61751397,1,-,94043441,GGCTGAGCACATGCTGTTCTATGCCCAGCTGAAAGGAAAGTCCCAGGAGGA,C>T,Q>*,stop-gained,ABCA4
rs121912648,8,+,132882609,TCAATCAGTCATCTCTGGCAGATTCCGATGTAAGTAATAAACTGCCAACAA,C>T,R>*,stop-gained,TG
rs863225243,5,-,141528456,GCTTGCCCATGTGGAGAAAGCCAGCCGAGGTGGGGCAGTTTGGAATGAAGC,C>T,R>*,stop-gained,DIAPH1
rs122445108,X,-,77717155,ATCTGAAGAAACAAGTTCTCCTCCACGACTTGCAATGAATCAAAACACAGG,C>T,R>*,stop-gained,ATRX
rs398123373_1,6,+,129316089,TCCTCGAGTCCATAGAACTGTGACCCGAGAAGACTTCTTGGATATACTATA,C>T,R>*,stop-gained,LAMA2
rs121908176,16,-,56514623,GCATGTCAGTGCATCCAGGGTCTTCCAGAGCCCCCTGGAATCTGATGTTTC,C>T,Q>*,stop-gained,BBS2
rs1057517661,11,+,68685628,AAACGAGGCTGGACCCTGAACAGCGCGGGCTACCTGCTGGGCCCACGTAAG,C>T,A>V,missense,GAL
rs779712562,10,-,89245712,AGATGGATATATTCTGTGCCTTAACCGAATTCCTCATGGGAGGAAGAACCA,C>T,R>*,stop-gained,LIPA
rs80358262,14,-,74486386,AGTGAATGTGAGCCCATGCCCCACCCAACCCTGCCAGCTGAGCAAAGGACA,C>T,Q>*,stop-gained,NPC2
rs150519745,1,-,17000107,GGTGGACTCCAGTGAGCTAGTGCCCGGAGACTGCCTGGTGCTGCCCCAGGA,G>A,G>R,missense,ATP13A2
rs863223293,16,+,10907555,TTCCCATCCGCAGACGTGAGGACCTGGGCGATGGCCAAAGGCTTAGTCCAA,G>A,W>*,stop-gained,CIITA
rs1060499783,6,-,63984462,AGAATTCTTCATCATCGATGAAGCACGACATGGAAAGAATATTGAGAACTG,C>T,R>*,stop-gained,EYS
rs375661404,17,+,28741140,CGGACAGTTGGGCACCAATACTCGCCGAGGCAGTCGGGCACCCTGTAAGGT,C>T,R>*,stop-gained,NEK8
rs121434332,19,-,12652376,TCAGCAACTCCTGCTGCCTGTTCGCCAGACCTTCTTCTGGTAAGGGAAGAT,C>T,Q>*,stop-gained,MAN2B1
rs41276738,12,-,6034812,ACTGCTCCTAGTGTCTGTCAGGACCGGAAGTGGAACTGCACAGACCATGTG,G>A,R>Q,missense,VWF
rs1182196436_1,18,+,31326922,TGGCACCATCAAATGGCATTCAATCCGAAGGCAGAAACGTGAATGGATCAA,C>T,R>*,stop-gained,DSG1
rs765468645,8,+,93765413,TTTTGTTATATTGAACAGGTGCGTCCGATGTGAGCCAACATTTGTTAATAC,C>T,R>*,stop-gained,TMEM67
rs281874755,X,+,108573646,TAATCCAGGATATCCAGGTCCTCCTGGAATACAAGTAAGTATCCAGTGATT,G>A,G>R,missense,COL4A5
rs104895530,19,-,54939525,GTGGGCGCAGATGTCCGTGTTCCACCGAGAGGACCTGGAAAGGCTCGGGGT,C>T,R>*,stop-gained,NLRP7
rs751185256_1,4,-,83264306,TTGTTGGAATAAATTTATCTCCAACCGAACACTGGGACTAATAGTTTTTTT,C>T,R>*,stop-gained,COQ2
rs387906320,17,-,43758672,CACAGCCTTCCGTGTAGTGGAGGGCCAGGGGTGGCAGGCGTTCAAGAATGA,C>T,Q>*,stop-gained,SOST
rs386833481,7,-,107791226,ACCCACTGTTAATTAGGTCCGTTTCCGATTCTGAGTATGATGGTGGGACTA,C>T,P>L,missense,SLC26A3
rs869025414,15,-,48427630,TCCCCACTGTGAGATCTGCCCTTTCCAGGGGACTGTGGCTTTCAAGAAACT,C>T,Q>*,stop-gained,FBN1
rs535289422_1,1,-,152307697,GGCTGGGCCCCATCAGCAGAGCCACCAAGAGTCCACACGTGGCCGGTCAGC,C>T,Q>*,stop-gained,FLG
rs398123100,X,+,153737159,GCCCCGCTGTGCTGTCTCTGCAGGCCAGGTGGTGGATGTGGAACAGGGGAT,C>T,Q>*,stop-gained,ABCD1
rs886039512,22,-,28689149,GGAAAATGAATCCACAGCTCTACCCCAGGTTCTAGCCCAGGTATTCGTATT,C>T,Q>*,stop-gained,CHEK2
rs1057518195,2,-,178535790,AGGCATGGGAGCAGTTCATGCTCTCCGAGGTGAAGTGGTCAGCATCAAGAT,C>T,R>*,stop-gained,TTN
rs781050795,19,-,11576780,CAAAGTGCCCTGGTACGTGCTAGCCGGAAACCATGACCACCTTGGCAATGT,G>A,G>R,missense,ACP5
rs587780588,13,-,110183002,AGGCATTGGATTTCCAGGGCCCCCCGGCCCCAAAGGTAACCCTGCCAGACG,G>A,G>S,missense,COL4A1
rs104893799,3,+,181712889,CGGCAGCTACAGCATGATGCAGGACCAGCTGGGCTACCCGCAGCACCCGGG,C>T,Q>*,stop-gained,SOX2
rs387907365,6,-,112140887,CATGGAAAGGTGTTTTTAACAGTCCCGAGTCTAAGTAGCACAGCAGAGGAA,C>T,P>L,missense,LAMA4
rs1057519160,2,-,178711235,GGATCAGAACCTATCTCCGTGTCTTGGTATAAAGACGGCAAGCCATTGAAA,G>A,W>*,stop-gained,TTN
rs750797779,19,-,36006809,GATCCTGCGGGCCCTGGGAGCTTACCGAGACTCCATCTTCCGGCGGCTCTG,C>T,R>*,stop-gained,SYNE4
rs63749795,3,+,37028833,TGTGGAAATGGTGGAAGATGATTCCCGAAAGGAAATGACTGCAGCTTGTAC,C>T,R>*,stop-gained,MLH1
rs145906668,4,+,186288514,GAGGTCTGGCATCTGGTAGGCATCACGAGCTGGGGCGAAGGCTGTGCTCAA,C>T,T>M,missense,F11
rs63750245_1,2,+,47416383,CCCTCAAGGACAAAGACTTGTTAACCAGTGGATTAAGCAGCCTCTCATGGA,C>T,Q>*,stop-gained,MSH2
rs199473554,3,-,38630392,CTGAATAAAGGCAAGACCATCTTCCGGTTCAGTGCCACCAACGCCTTGTAT,G>A,R>Q,missense,SCN5A
rs1021662947,16,-,23614039,AAAGATGCACATTGATGATTCTTACCAAGCTTCAGTCTGTCACAAAGCCTA,C>T,Q>*,stop-gained,PALB2
rs398123013,9,-,35741758,TGCTTTCTACCATGCCCTCTATCCCCGAGCCTGGACTGTCTATCAGCTTCC,C>T,R>*,stop-gained,GBA2
rs104894559,17,+,60150074,GGCGCTCCTGGCCCTCTCCGCGGCGCGGCCATCGGCCAGTGCAGGTGAGCT,C>T,R>W,missense,CA4
rs587777460,19,+,11030880,ACTGTGATCATTTTTGACAGCGACTGGAATCCTCACCAGGTAAAAGCGGGC,G>A,W>*,stop-gained,SMARCA4
rs121907970,15,-,72350584,TGTGAAGGAGGTCATTGAATACGCACGGCTCCGGGGTATCCGTGTGCTTGC,C>T,R>W,missense,HEXA
rs120074189,11,+,2778003,AAGAGCAAGGATCGCGGCAGCAACACGATCGGCGCCCGCCTGAACCGAGTA,C>T,T>M,missense,KCNQ1
rs1064796985,4,+,39205588,GTATGGTGATGGCCGCATCATGATTGGTTTTTCATGTGGACATTTTGTGGT,G>A,G>S,missense,WDR19
rs397514332_1,10,+,102402138,GAGGCTGCTGAGGGGTCCAGAAACCCGAGACAAGCTGCCCAGCACAGGTAA,C>T,R>*,stop-gained,NFKB2
rs199665722,1,+,21568123,TTTTAGGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAAA,G>A,R>Q,missense,ALPL
rs768131676,3,-,25732339,TGGGTCAGTGGCTTGGAGAGTAGCCCGAGGTGAAATGGGTCTACAGGTATT,C>T,R>*,stop-gained,NGLY1
rs121908642,9,+,130489404,AGACATCGAGGCCTTCACCATGGACCGGGAAGTGCGCAAAATCAAACAAGG,C>T,R>W,missense,ASS1
rs386833844,8,-,144515236,TCAACATCTGTGTCTGCAGAGACGCCGGCTGAGGTGTTCCAGGCCCTGGAG,C>T,P>L,missense,RECQL4
rs201217593,X,-,31177947,AGTCCCGTTACTCTGATCAACTTCTGGCCAGTAGATTCTGCGTGAGTACTT,G>A,W>*,stop-gained,DMD
rs199867882,3,-,101231117,CCGGGTGGGTGAGAACTGGTGGTACCGAGGCAAGCACTGTGAGGAATTTGT,C>T,R>*,stop-gained,IMPG2
rs28940290,9,-,132281483,GTAGGAGATCCTAAGCAGCTCCCTCCGACAGTCATCTCTATGGTAAGTTTT,C>T,P>L,missense,SETX
rs431905508,4,-,169589478,AACTAAAGATGGAACAGTACAACTTGGAGATTTTGGAATTGCTAGAGTTCT,G>A,G>R,missense,NEK1
rs201258800_1,8,+,38245878,GGACACAGTTGCTTCTGAAATGAACCGAATATACACACTTTTTCTACAGAG,C>T,R>*,stop-gained,DDHD2
rs587779584,2,+,188996134,GACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGA,G>A,G>R,missense,COL3A1
rs200389141,15,+,90761015,AATAAATGACTTAGAAAGAGAAACCCAACCTTCCTATGATATTGATAATTT,C>T,Q>*,stop-gained,BLM
rs373180788,8,-,144516602,GCCCCAGCCAAGGCCAGGCCGGCTCCAGCATCTGCAGGCATCCCTGAGCCA,C>T,Q>*,stop-gained,RECQL4
rs267607054,5,+,132390832,CTGGCTGCTGCTGCAATATTTGCCCCGGCGCTATTCCATGGCCACTGCCCT,C>T,R>W,missense,SLC22A5
rs587783692,12,-,49030958,GGCAAGCGACAGGTTGGTGAGCTCCCGAAAGAAGCTGCGGAAGGAGGACGG,C>T,R>*,stop-gained,KMT2D
rs886042045,9,+,134809213,GAAAGGCCCACAAGGCCCAGCTGGCCGAGACGGTCTCCAGGGGCCTGTGGG,C>T,R>*,stop-gained,COL5A1
rs28941781,3,+,46709188,ACGGACCCGGAAGGAGATCGAAGCCCGGTACCTGCAGCGAAAGGCAGCCAA,C>T,R>W,missense,TMIE
rs727503188,11,-,47337544,GGAGCGCAAGAAGAAGAAGAGCTACCGGTGGATGCGGCTGAACTTCGACCT,C>T,R>W,missense,MYBPC3
rs72555392,3,-,33072613,ATCTCAGGAAGCATTCACTACTCCCGTGTGCCCCGCTTCTACTGGAAGGAC,G>A,R>H,missense,GLB1
rs72654802,17,-,50188122,TCCTGCTGGTCCCGCCGGTCCTGTCGGCCCTGTTGGCGCCCGTGGCCCCGC,G>A,G>S,missense,COL1A1
rs730880597,11,-,47332245,CCTTATTTATAGCCCAAGATTTCCTGGTTCAAGAATGGCCTGGACCTGGGA,G>A,W>*,stop-gained,MYBPC3
rs11538758,20,+,4699534,AGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCT,C>T,P>L,missense,PRNP
rs104893613,2,+,98396017,GTTCAACCGCCTACTGAAGTTTTCCCGGCTCTTTGAATTCTTTGACCGCAC,C>T,R>W,missense,CNGA3
rs730882203,1,+,46510953,TCCCCAGGTGTGGTTCAAGAACCGCCGGGCCAAGTTCCGGAAGAAGCAGCG,C>T,R>W,missense,DMBX1
rs121909287,12,+,51916218,CCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGTGAGGGCCC,C>T,R>W,missense,ACVRL1
rs387906595_1,7,+,43787943,TGGCGTGGTGGTGGTTGGTGTTGGCCGAGCCGGCTCCGTGCGGATGAGGGA,C>T,R>*,stop-gained,BLVRA
rs387906747,1,-,119915773,GCTCATCCCTAAAGGCAGTATTGCCCAACCAGCGGGGGCTCCCCAGCCTCA,C>T,Q>*,stop-gained,NOTCH2
rs587783600,X,+,48523953,GCTGCGGTTGTCCCATTGGGGACTTGGCGGCGACTGTCCCTGTGCTGGTTT,G>A,W>*,stop-gained,EBP
rs796052680,8,-,132172678,CTCCCTCCAGGGCATCCTGGGGTCCGGGCTGGCCCTCAAGGTGCAGGAGCA,G>A,G>R,missense,KCNQ3
rs770045897_1,3,-,15470574,AGGTGAACCTGGGATAGCAGGACACCGAGGACCCACAGGAAGACCAGGAAA,C>T,R>*,stop-gained,COLQ
rs879254022,X,-,101398879,AATTTTGCTGACATTGATGATTCCTGGAAAAGTATAAAGAGTATCTTGGAC,G>A,W>*,stop-gained,GLA
rs886041581,X,+,71136380,CTCTTGGGGCTGGTTTGGAACAGTCCGAGTGGACCGGCGAGTGGCTCGAGG,C>T,R>*,stop-gained,MED12
rs137853317,X,-,154367878,CTTCAGCCGGGACTGGCAGAGCGGCCGGGCCCTGGGCGCCCTGGTGGACAG,C>T,R>W,missense,FLNA
rs794729287,2,-,178568695,CAGTAGTTACAGTGTACAGGTTGGCCAAGATTTGAAAATAGAAGTGCCAAT,C>T,Q>*,stop-gained,TTN
rs121917918,2,-,166058651,TTGAATAAAGGGAAGGCCATCTTCCGGTTCAGTGCCACCTCTGCCCTGTAC,G>A,R>Q,missense,SCN1A
rs397507224,17,-,43091540,ACAAATGAGGCATCAGTCTGAAAGCCAGGGAGTTGGTCTGAGTGACAAGGA,C>T,Q>*,stop-gained,BRCA1
rs121908390_1,16,+,50796443,CTCCAGGAGAATCCAAGGCTGTGCACGAAGACTGCTTTGTGATGCATATAT,C>T,R>*,stop-gained,CYLD
rs886038870,15,-,48415648,GTATGAACAGTTCAGTGGAGGATGCCAAGACATCAATGAATGTGGCTCTGC,C>T,Q>*,stop-gained,FBN1
rs193922702,12,-,4370563,ACCCCCATACCACGGCGGCACACCCGGAGCGCCGAGGACGACTCGGAGCGG,G>A,R>Q,missense,FGF23
rs796052820,X,-,100406743,CGACCGCGGCTTCTTTGAAATAGACCAGGTCAATGGCGAAGTCAGAACCAC,C>T,Q>*,stop-gained,PCDH19
rs368260932,7,+,21749702,GGTAGATCTTGCCAATTTGTACATCCGAACTGGAGCCAAGAACATGCCCAC,C>T,R>*,stop-gained,DNAH11
rs761494650,22,-,28734637,GCCCCATGGCAGCGTTACCCAGTCCCAAGGCTCCTCCTCACAGTCCCAGGG,C>T,Q>*,stop-gained,CHEK2
rs376128990,12,-,109561053,GCATTTCTGCCGGGCCGTGTGCCGCCGGGCCGAGAGACGGTAAGAGGGCTG,C>T,R>W,missense,MMAB
rs886037950,14,+,88572606,GACTTACGATGATGGAGCTGCAACCCGACTAATGTCAACAGTGAAACCTTT,C>T,R>*,stop-gained,ZC3H14
rs72667036,17,-,50197770,TCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAA,C>T,R>*,stop-gained,COL1A1
rs398122405,1,+,65406052,GCCCAGCATGCCCCACTCCTCTCCCCAGAACCGACCCAACTACAACGTGAG,C>T,Q>*,stop-gained,DNAJC6
rs886040849,13,+,32398252,GTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGG,C>T,Q>*,stop-gained,BRCA2
rs387907042,3,+,128899450,AAACCCGAAGATAAATTAGGCATTCGGGGCTCCAACAGTAAGTAGCTCCTG,G>A,R>Q,missense,ACAD9
rs267606740,16,-,70481397,CTGGACCATCCGAGACAAGTTTGCCCGGCTCTCCCAGATGGCCACCATCCT,C>T,R>W,missense,COG4
rs773450573,17,+,47946682,GGTCAAACCAACCGCCTGCATGACCGGATAGTCTTTCGGCGGGGCCTACCC,G>A,R>Q,missense,PNPO
rs121908070,5,+,177238273,CTGTGAAGAGGAAAGCCTTCTAGCCCGAGGTCGATCTAGTGCTCAGAACAA,C>T,R>*,stop-gained,NSD1
rs886041848,3,-,38622415,ATGGCCCAGCACGACCCTCCACCCTGGACCAAGTATGTCGAGTGAGTATCT,G>A,W>*,stop-gained,SCN5A
rs148195788,3,+,12392714,AGTAGAAATAAATGTCAGTACTGTCGGTTTCAGAAATGCCTTGCAGTGGGG,G>A,R>Q,missense,PPARG
rs746102997,3,+,136283855,TTGGCAGAGGAATGTTACGGCATCCGGAGTCATCCCTCAGATTTCTCTGAT,G>A,G>R,missense,PCCB
rs118203916,16,-,71568260,GTGCTTTGAGTACCCGAATTTCATCCGAGTGGTCATCACAGTCCCCGAGGT,C>T,R>*,stop-gained,TAT
rs397514534,10,+,12094141,CCCAGAGGAAGTGGTCCGTGCCACACGACTGGCTTTTGAATACCAACGCCA,C>T,R>*,stop-gained,DHTKD1
rs121434483,17,+,2674205,AACAAAGGAATGCAAGGCTGAGCTCCGAGAGCATGAGCATGTGGTAGAATG,C>T,R>*,stop-gained,PAFAH1B1
rs149766077,6,+,80168944,TTTTAACTGTGGAAGCCTCACTATCCGGTCCCCTTGGGGCTGTGTTGGTCA,C>T,R>W,missense,BCKDHB
rs1064793265,7,-,83981442,TATTGGTTCAACGGCTGGGGTTGCCCAGCTCCCTTTACACCGGTGTGATAT,C>T,Q>*,stop-gained,SEMA3A
rs121917702,6,-,32847132,GTGGCGTTGGCCCGAGCATTGATCCGGAAACCGTGTGTACTTATCCTGGAT,G>A,R>Q,missense,TAP1
rs796053042,2,-,165991693,GATTTGCCCATGGTGAGTGGTGACCGGATCCACTGTCTTGATATCTTATTT,G>A,R>Q,missense,SCN1A
rs104894513,16,-,88646773,CCCTTTACCAGGAATTACTATGTTCGGGCCGTCCTGCATCTCCTGTGAGTC,G>A,R>Q,missense,CYBA
rs113994153,17,+,75521817,CAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCC,C>T,Q>*,stop-gained,TSEN54
rs397514470,3,-,38009945,CATCCTGGGCCCCATGCTGTTGAACCGACCACTGGATGGGGTCACCAACAG,C>T,R>*,stop-gained,PLCD1
rs121918164,15,+,89315318,GCAGCACATGAAGCTCAGCACCTCACGAGACTTCAAGATCAAAGGAAACAT,C>T,R>*,stop-gained,FANCI
rs763159520,1,+,21564118,CGCCGCCTACGCCCACTCGGCTGACCGGGACTGGTACTCAGACAACGAGAT,C>T,R>W,missense,ALPL
rs281865548,17,+,7702770,TGCTGAGCTCCTGTGCTGGGATCTCCGGCAGTCTGGTTACCCACTGTGGTC,C>T,R>W,missense,WRAP53
rs587777211,9,+,132990916,CCAGGTGTGCGGAAAGGCCTTCAGCCAGAGCTCCAACCTCATCACCCACAG,C>T,Q>*,stop-gained,GFI1B
rs730880026,2,-,219250740,TACATGGCCTGCTGCCTGCTGTACCGTGGAGATGTGGTGCCCAAGGATGTC,G>A,R>H,missense,TUBA4A
rs397508496,7,+,117610633,TATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACT,C>T,Q>*,stop-gained,CFTR
rs1064795231,16,+,89935296,ACAGCCCGGGGCAGCCAGCAGTACCGGGCCCTGACCGTGCCCGAGCTCACC,G>A,R>Q,missense,TUBB3
rs780209390,4,-,108863327,TGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAAC,G>A,G>R,missense,COL25A1
rs202107577_1,2,+,210606910,CATTGAAGTGAATGCCAGACTGTCCCGAAGCTCTGCTCTGGCCTCAAAAGC,C>T,R>*,stop-gained,CPS1
rs368631447,11,+,103253384,AGAAACCCAAATCCTTTTATTCCACCGGATGCAGCTTCCATTGTTACTGAG,C>T,P>L,missense,DYNC2H1
rs863224504,5,-,13770852,GTGTGTTGATTATTTTCAGAGATTCCGACGTTCTACCCACGTGACGCCCAA,C>T,R>*,stop-gained,DNAH5
rs118203682,9,-,132902640,CCAGATCAGACAGCTGCAGCATGACCGAGAGGAATTCTACAACCAGAGCCA,C>T,R>*,stop-gained,TSC1
rs104886457,9,-,95101742,AAGCCCTAGATCAGAAAAACTGGCCCGAGAGCTCCTTAAAGAGCTGCGAAC,C>T,R>*,stop-gained,FANCC
rs104893947,6,+,131581278,GTCCACCCTGATCTTGGAGTCATCTGGGTGGATGCTCACACTGATATCAAC,G>A,W>*,stop-gained,ARG1
rs1057519484,4,-,110621225,GCCACTTTCCAGAGGAACCGCTACCCGGACATGTCCACACGCGAAGAAATC,C>T,P>L,missense,PITX2
rs781546107,17,+,18122305,GGCAGATGCCTATGGACCCTGGCCACGAGTACACACCCATCCCCAGTCCTG,C>T,R>*,stop-gained,MYO15A
rs376142095,20,-,5302452,ACCCTGTGCTATGCCAGGATCTCCCGGGAGCTCTGGTTCAAGGCAGTCCCT,G>A,R>Q,missense,PROKR2
rs368778627,17,-,17222501,GCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCA,G>A,W>*,stop-gained,FLCN
rs34126013,1,-,45332458,CGGTGTGGTGGATGGCAACGTAGCACGGGTGCTGTGCCGTGTCCGAGCCAT,C>T,R>W,missense,MUTYH
rs1060499936,19,+,11021959,GTTTAACGCACCCTTTGCCATGACCGGGGAAAAGGTGGGTTTGCCCAGCTG,G>A,G>R,missense,SMARCA4
rs778034451,2,+,227273117,AGCCCCCGGACCACCCGGAGAAGCCGGTTGGTTAGTTTTCTTTCCAGTCCT,G>A,G>S,missense,COL4A3
rs104886237,X,+,108666549,GCCTCCAGGCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCAGC,G>A,G>S,missense,COL4A5
rs377205432,11,-,128839289,ATCCAAGACAAAGGAAGGGAAATACCGAGTGGATTTCCATAACTTTAGCAA,C>T,R>*,stop-gained,KCNJ1
rs864309691,13,-,20143113,GACTTCACCTGCAACACCCAGCAGCCGGGCTGCGAGAACGTCTGCTACGAC,C>T,P>L,missense,GJA3
rs17279437,3,-,45772602,TGATGCCCGCAGGTGGTGTATTTCACGGCGTCACTGCCCTATTGCGTGCTC,C>T,T>M,missense,SLC6A20
rs104894031,7,-,128775556,CTACATTCTGGTCAACGTGTCCTTCGGAGGCTTCCTCCTCTGCATCTTCTC,G>A,G>R,missense,OPN1SW
rs148434485,1,+,43338146,CTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTT,C>T,R>*,stop-gained,MPL
rs771853367_1,1,+,99902746,AAAACACATGCAGGGCATACAGTTCCGAGAAAGGAATGCTGGTCCCCAGAT,C>T,R>*,stop-gained,AGL
rs764841861,7,+,100204096,GCAGATTGACCGAAGTCATTGTTCCCGAATCCTGCTGCTGAGCCTCAAGCA,C>T,R>*,stop-gained,STAG3
rs863224455,5,+,112819104,GTCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGA,C>T,Q>*,stop-gained,APC
rs1085307584,X,+,22221724,ATTAACCAGTATAGCAACTATTATTGGAAGAAAGCTGGCTTAAATGTGAGT,G>A,W>*,stop-gained,PHEX
rs377767357,18,+,51067072,GAATGTAAAGGTGAAGGTGATGTTTGGGTCAGGTGCCTTAGTGACCACGCG,G>A,W>*,stop-gained,SMAD4
rs876659654,5,+,132642212,AAGTCGCTCACAGCAGCGTAACTTCCAGCTTCTGGTAATCACTCATGATGA,C>T,Q>*,stop-gained,RAD50
rs777267343,17,-,80210664,CAAGGACCTCCGTCATTACTACTACCGGGCGCGCTGGGAGCTCTACGACCG,C>T,R>W,missense,SGSH
rs61752116,1,+,10624405,GCTGATTCAGCAGCAGCAGAAGATCCAGGAGCTTGCCCACGAGCTGGCCGC,C>T,Q>*,stop-gained,PEX14
rs387907268_1,17,+,76540205,GCTCTGGCGCCGCCGATTTGCCAACCGAGTCCAACCGTGAGAAACTGACCG,C>T,R>*,stop-gained,PRCD
rs606231417,2,+,203870627,GCCTGCTGTGGTACTGGCCAGCAGCCGAGGCATCGCCAGCTTTGTGTGTGA,C>T,R>*,stop-gained,CTLA4
rs1060503016,22,+,23791814,CTGTACAAGAGATACCCCTCACTCTGGAGGCGACTAGCCACTGTGGAAGAG,G>A,W>*,stop-gained,SMARCB1
rs879255236,X,-,64917821,TCTTTGCAAGGCCAAGAGTCGGTCCCGGAACCCCAAAAAGCCGAAACGGAA,C>T,R>W,missense,ZC4H2
rs121908738,20,-,44622612,AGCTACCTCACTGGTGCCTGGAAGCCGGACACGGAGCATGCAGTCATTCGG,C>T,P>L,missense,ADA
rs761703540,6,-,104771949,GCAGCTGGTCAATATTTACTTCACACGATCCTTCTACAAGCACATTCTTGG,C>T,R>*,stop-gained,HACE1
rs121912651,17,-,7674221,CAGTTCCTGCATGGGCGGCATGAACCGGAGGCCCATCCTCACCATCATCAC,C>T,R>W,missense,TP53
rs781580050,1,+,99861520,TTATTTAGGGTATGAGCTACAGTTCCGATTAGGCCCAACTTTACAGGGAAA,C>T,R>*,stop-gained,AGL
rs1194065564_1,20,-,35437463,GAAGGCCAGGGAGCCCGGGCCCCCACGAGAGCCCAAGGAGCCGTTTCGCCC,C>T,R>*,stop-gained,GDF5
rs780585710,2,-,29071869,GAATCTCTCAAAATGGGCATAGGCTGGAAGCCCTTAGCACCTATCTTTCCC,G>A,W>*,stop-gained,C2orf71
rs781496816,15,+,80168116,TGTCGTGGTGTCTGGCACCCCAATCCGAAGGCCCATGGGACAGATGAAACC,C>T,R>*,stop-gained,FAH
rs886041635,1,+,7744883,ACACATTATTGAAGCCACACCTGACCGAATCAAGCAGGAGAATTTTGTGCC,C>T,R>*,stop-gained,CAMTA1
rs587783554,X,-,111401217,AACATCTGCCAATATGAAAGCCCCCCAGTCCTTGGCTAGCAGCAACAGTGC,C>T,Q>*,stop-gained,DCX
rs137853284_0,13,-,51958334,GCTCTTTGTGTTCATTGCCCTGGGCCGGTGGCTGGAACACTTGGCAAAGGT,C>T,R>W,missense,ATP7B
rs111033626,X,+,124370276,GGCATTGTAATACCTCTGCAGTATCCAGTTGAGAAGAAGTCCTCAGCTAGA,C>T,P>L,missense,SH2D1A
rs555811074,9,-,128636919,CTCTGTGGTGGCCTGTGCCTACGGCCGGTGAGTGGCAGCGGGGCAGGTGAG,C>T,R>W,missense,WDR34
rs794727636,2,+,71503242,CCTGGGGGAAGCCAAGGTCCCACTCCGAGAGGTCCTCGCCACCCCTAGTCT,C>T,R>*,stop-gained,DYSF
rs769721856,2,+,71612701,CACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGG,C>T,Q>*,stop-gained,DYSF
rs886040220,17,-,43082491,AGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAACAGCTACCCTTCCAT,C>T,Q>*,stop-gained,BRCA1
rs121912923,2,+,188996479,TCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTC,G>A,G>S,missense,COL3A1
rs80338860,11,-,71435749,GGGCCTGGTGGGCTACTACATCTTCCGGGTGGCCAACCACCAGAAGGACCT,C>T,R>W,missense,DHCR7
rs28933990,15,-,89210794,GTCACCGCAGGATTCCTTCCCAGCCCGGTTCAAAGCCATCCACTTCATCCA,C>T,R>W,missense,RLBP1
rs1057516281,11,-,17398344,AGCTGCCAACAGATGGCTGGAAGTCCGAATGGCAAGTGCTATTCCCCTCTA,C>T,R>*,stop-gained,ABCC8
rs104894358_1,12,+,4912627,GTCCAATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGC,C>T,R>*,stop-gained,KCNA1
rs121908053,16,-,67940115,GTGCTCTATGAGGATGGTGATGACACGGTGGCGACCCGCAGCACCGAGCTC,C>T,T>M,missense,LCAT
rs764450149_1,6,-,33188439,GAAGCGAGTCACCCGGCCTCTCCCCCGAAGTGCTCGTCCAGTATTGGACAC,C>T,R>*,stop-gained,COL11A2
rs387907144_0,6,+,157181056,GCCAGAGAGAAAGCTCTGGGTCGACCGATACCTCACCTTCATGGAAGAGAG,C>T,R>*,stop-gained,ARID1B
rs1060499801,11,+,77211296,CAAGCTGCTGCGGGAGCTGGTGCCCCAGGACCTTATCCGGCAGGTCTCACC,C>T,Q>*,stop-gained,MYO7A
rs137853294,13,+,48459708,CACAGTGTATCGGCTAGCCTATCTCCGGCTAAATACACTTTGTGAACGCCT,C>T,R>W,missense,RB1
rs121909293,1,+,15445717,CCGCAAGAAGCCGGTAGTCTACACCCGGGTGTCCGCCTACATCGACTGGAT,C>T,R>W,missense,CTRC
rs273585617,16,+,88427760,AAGAGGGGCAGCCCCCAGACCCCACCGGGGAGAAGCCCCTTGCAGGCTCCC,C>T,P>L,missense,ZNF469
rs886041370,17,-,80214206,AGCGGCATGGGTCGTATCCCAGACTGGACCCCCCAGGCCTACGACCCACTG,G>A,W>*,stop-gained,SGSH
rs757793925_1,21,+,46443815,GTTAAATAATTCTGGGGAAGGGCCCCGAGCACGACAGCCGCAGTCTCCACC,C>T,R>*,stop-gained,PCNT
rs137854448,19,+,855613,GCCAACGTGCAGGTGGCCCAGCTGCCGGCTCAGGGACGCCGCCTGGGCAAC,C>T,P>L,missense,ELANE
rs864309606,5,-,150250800,CTCTGCCCCTTCCAGTTCCCATCGCCGGAATGGGACACTGTCACCCCGGAA,C>T,P>L,missense,CAMK2A
rs587776946,1,+,113114471,ACCCCTGGAGGATAAGACAGTAACACGAGGTGAAACTGCGGTGTTACAGTG,C>T,R>*,stop-gained,LRIG2
rs768407867,2,-,174748177,AGTCTTCATGCTTGTTTGCATCATCGGAACCCTAGCCGTGTTTGCAGGTCG,G>A,G>R,missense,CHRNA1
rs886041642,3,-,12590819,ATGTTCCAGCTAATTGACATTGCCCGGCAGACGGCTCAGGGAATGGAGTGA,G>A,R>Q,missense,RAF1
rs121918670,1,+,115034015,GTTTCTTCCCAAATATGCTCTGTCCCAGGATGTTTGCACATATAGAGACTT,C>T,Q>*,stop-gained,TSHB
rs876659874,17,+,58724049,TGTTTTTTACTCTCAGGGGAAAGTTGGGGACATGCTGCTACAATACGGCTA,G>A,W>*,stop-gained,RAD51C
rs1057519289,1,-,16986346,CTGCCCTTTGCAGAGCGTGCTAGACCAGTGCCTCCCCGCCTGCCTGCGCCG,C>T,Q>*,stop-gained,ATP13A2
rs991104525,5,-,78969051,CGGAAAATGGCACCTGGGAATGTACCGGAAAGAATGCCTTCCAACCCGCCG,C>T,R>W,missense,ARSB
rs104894189,10,+,78035394,CCGCACTAGAAAGTTCATGACCAACCGACTACTTCAGAGGAAACAAATGGT,C>T,R>*,stop-gained,RPS24
rs121908441,11,-,74457268,CCCTATCATGTGTATATCAAGAACCGTGTGTCTATGATCTAACACGAGAGG,G>A,R>H,missense,KCNE3
rs1064796660,12,-,47980941,TGAACGTGGAGAGACTGGGCCCCCCGGACCAGCGGGATTTGCTGGGCCTCC,G>A,G>R,missense,COL2A1
rs1057518352,6,+,33432787,CTTTCGCCAGATCCTGCCTCGCTTCCGAAGTGCTGACCATGACCGGTACAG,C>T,R>*,stop-gained,SYNGAP1
rs104894260,11,-,64805077,CCCACGCCTGTGCTGCATGTGGGCTGGGCCACCTTTCTTGTGCAGTCCCTA,G>A,W>*,stop-gained,MEN1
rs201740530,8,+,100233436,AGCTCTCTGTTACTTGAAGCTGTGCCAGTTTGAAGAAGCAAAGCAGGACTG,C>T,Q>*,stop-gained,SPAG1
rs118203673,9,-,132902703,AGAACAAGCTAGATACAATCAGCTCCAGGAGCAGCGTGACACTATGGTAAC,C>T,Q>*,stop-gained,TSC1
rs121912891,12,-,47976052,CTTGCAGGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAA,G>A,G>S,missense,COL2A1
rs1006898944,19,+,36099453,GGCCTTCCACGCCAAGCGCAGCTACCAGCCCCACGGCCGCTGGGCAGAGCG,C>T,Q>*,stop-gained,WDR62
rs1135401818,1,+,7677682,CTCGGTGGTGTTTGAGTACAAAGCCCGGGCTCTGCCCACGCTCCCTTCCTC,C>T,R>W,missense,CAMTA1
rs866445127,17,+,31352348,TCCAACTGTCGGCCAGACCAGTCCCCGAGCCAGGAAATCCATGAGCCTGGA,C>T,R>*,stop-gained,NF1
rs786201031,22,+,24412690,GGCTTTCCAGGCAGCTGAAAGTGTCGGCATCAAATCCACACTGGTGAGCCC,G>A,G>S,missense,SPECC1L
rs121907938_1,17,+,80113350,CCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGAC,C>T,R>W,missense,GAA
rs72653178,17,-,50188619,CCGCCAGGGTGACCGTGGTGAGACCGGCCCCGCTGGACCCCCTGGTGCTCC,G>A,G>S,missense,COL1A1
rs937550597,2,-,227056071,ACAGCCGGGAGATGTGGGGCCTCCCGGGCCAGCTGGAATGAAAGGCCTCCC,G>A,G>R,missense,COL4A4
rs748404250,8,-,66177389,TGCAGGGCGCTCCTGAGCCGCGGGCCGGTCCCGGGAGCTCGGCAGGCGCCG,C>T,P>L,missense,CRH
rs121908189,11,-,119345538,CAACACCCACTGCGTGTGGCATATCCAGGTGGCCACAGACCATGCAATACA,C>T,Q>*,stop-gained,MFRP
rs121434241,1,+,150344216,GGAACAGAAGCTGTTCAAGACCCCACGAAGGTAGAAGCCCACGTCAGAGCT,C>T,T>M,missense,PRPF3
rs121434312,15,+,38322382,TGCTAGGGCTTTTGATAGAGGTATCCGAAGAGCTATAGAGGATATTTCTCA,C>T,R>*,stop-gained,SPRED1
rs121908607_1,5,-,53109714,CCTAGGCGGGATGGTGCCGCTGTGCCAGGTAAGGGTGGCGGGTGTGCGTGC,C>T,Q>*,stop-gained,MOCS2
rs794726870,2,+,197705829,AGATTTCATCCGCACCACGGAGGCCCGGCACCGGGTGGCTGTGCAGCACTT,C>T,R>W,missense,MARS2
rs200164773_1,8,-,71322242,AATTGGGAGCAGTAGTTTCAGCCCACGACCAACTCACCAGTTCTCTCCACC,C>T,R>*,stop-gained,EYA1
rs387907251,5,-,1264479,GGTGGCACGGCTTTTGTTCAGATGCCGGCCCACGGCCTATTCCCCTGGTGC,C>T,P>L,missense,TERT
rs121913571,6,+,129516231,TGGCCTAACAACCAGTATTCCGTTCCGAGGTTGCATCAGATCCCTGAAGCT,C>T,R>*,stop-gained,LAMA2
rs141026028_1,6,+,7583758,TTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGA,C>T,R>*,stop-gained,DSP
rs762551629_1,11,-,17521392,TTTCAGAAGGAGAAAAGAAATTGCCCAGAAGGCAGCAGAGGAAAATGAGAG,C>T,Q>*,stop-gained,USH1C
rs1293658262,X,-,131281867,AGGAAAGGCCATCACCCTTCAGTGCCGAGTATCTCATCCAGTACTGGAATT,C>T,R>*,stop-gained,IGSF1
rs122454128,X,-,20156144,CCACTGGGACCAACTGCCACAATACCAACTAAACAGACAGGATGCACCACA,C>T,Q>*,stop-gained,RPS6KA3
rs138282349,9,+,135792094,CACGTGGCCAGCAGCTCCCAGAGCCGGAAGAGCAGCTGCAGCCACAAGCTG,G>A,R>Q,missense,KCNT1
rs754049402,1,-,225404655,GCAAATTCTCAGAAAAATGCATTCCGGAAAAATCCCAGTGATCCAAAGCTT,G>A,R>Q,missense,LBR
rs869312748_1,1,+,214663729,AGAGGGCCTGAGGGTCAAGCGAGGCCGACTTGTCCCCAGCCCCAAAGCTGG,C>T,R>*,stop-gained,CENPF
rs80338744,2,-,169282951,AATTTGTGACCAGAAGTGTGAAAGCCGACCTGGCCGTCACCTGTGCCACTG,C>T,R>*,stop-gained,LRP2
rs587783652_1,16,+,57659534,CCTGACAGGCTCTGAGGCTGGCTGCCGAGCCAGTGCCATCTTCCTGCACTT,C>T,R>*,stop-gained,ADGRG1
rs62645904_1,11,+,89191214,GTGTTTTGTACAGATTGTCTGTAGCCGATTGGAGGAGTACAACAGCCATCA,C>T,R>*,stop-gained,TYR
rs762139460,2,-,227059546,CCCTGTTGGGCCCCCAGGCCCTCCCGGCTCACCAGGAGTGAATGGTCAGAA,G>A,G>S,missense,COL4A4
rs11540652,17,-,7674220,AGTTCCTGCATGGGCGGCATGAACCGGAGGCCCATCCTCACCATCATCACA,G>A,R>Q,missense,TP53
rs757600616,1,-,119033279,AGACCCTGACAAACTGGCCACCGTCCGAATAACAGACAGCCCAGAGGAGAT,C>T,R>*,stop-gained,WARS2
rs62645917,11,+,89284792,CTGCAGTATTTTTGAGCAGTGGCTCCGAAGGCACCGTCCTCTTCAAGAAGT,C>T,R>*,stop-gained,TYR
rs121908332_0,8,-,139618677,TATCCTGGTGGGGCTGACGGTCATCGGGGCCTTCCTCAACCTGGTCGTCCT,G>A,G>R,missense,KCNK9
rs879255584,X,+,10220837,GATGGAAACGGTGGTGGATATCTTCCGGAAACTGGGGCTTCGGCAGTGCCT,C>T,R>W,missense,CLCN4
rs137854440,8,-,143727432,CCGCTCGCGCCTGAACCCCCTGGTCCAGCGCAGCTCCAGGCTGCGCTCCTC,C>T,Q>*,stop-gained,FAM83H
rs866982675,3,-,121781790,ACTCCAAGAACTCACTGATGCACGCCGAGTTGAACTGAAGAAACGAGTGGA,C>T,R>*,stop-gained,IQCB1
rs180177354,8,+,99135674,CCTTACAAATTCATTGTTTGATTACCGAAGCCCAGAAAATAATGGTACTCG,C>T,R>*,stop-gained,VPS13B
rs202175091,1,-,215782070,TATTCATATCAGCTGAAAGCTTGCACGGTTGCTGGCTGTGCCACCAGTAGC,C>T,T>M,missense,USH2A
rs1064795626,4,+,112646612,GCTTGATTTGGAAGGCACCAGAATCCGGAGGAAAAAACCTCTGGGGGAAAG,C>T,R>W,missense,LARP7
rs273585629,16,+,88438655,GCCCGCCACCCCCAAAGCCAAACCCGGCCCCAGCTCCCAGGGCAGTGGAAG,G>A,G>S,missense,ZNF469
rs267606725,2,+,232539760,GAGCTGAGGCACCATGCATGGGGGCCAGGGGCCGCTGCTCCTCCTGCTGCT,C>T,Q>*,stop-gained,CHRNG
rs137854612,3,-,38560170,AGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGT,G>A,G>R,missense,SCN5A
rs121918225,20,+,18526508,GCATGATATTGAGAAAGATAATGCACGATTCATGAAAAAGGCAACCAAGGT,C>T,R>*,stop-gained,SEC23B
rs183431253,10,+,71790413,CCTCTTTGACATCAACAGCAGCACCGGTGAGGCCTCTGTGCCACCCAGCAC,G>A,G>S,missense,CDH23
rs387907136,8,-,95247712,AAAGTTGATAAAGAAGAAAGGAACACGGGCATATGCCTGCCAGTGTAGCTG,C>T,R>W,missense,C8orf37
rs63751153_1,3,+,37025823,GAGCAAACCCCTGTCCAGTCAGCCCCAGGCCATTGTCACAGAGGATAAGAC,C>T,Q>*,stop-gained,MLH1
rs5030813,3,+,10146567,GACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCT,C>T,Q>*,stop-gained,VHL
rs72559716,11,-,17395172,GGTGAAGGCACTGCCAGGAGGCCTCGGTAACTACTCCTGGCTATGCAGCTG,G>A,D>N,missense,ABCC8
rs104894319,11,-,74005844,CCAGCCCACAGATGTGGTGAAGGTCCGATTTCAGGCCAGCATACACCTCGG,C>T,R>*,stop-gained,UCP3
rs1064796630,1,-,45332576,GGCCATTGCCTCTATCGCCTTTGGCCAGGTGATCTCACAGCCCACCCCCAC,C>T,Q>*,stop-gained,MUTYH
rs1057521126,11,+,119092785,AGGAGGCTGCAGTGTGCCAGTAGCCGTGCATACAGCTATGAAGGATGGGCA,G>A,V>M,missense,HMBS
rs587783295,1,-,197090004,AATTTCTAAAATATTTGTTTTGATCCGAAGTTGTAATCGCAGTATTCCTTG,C>T,R>*,stop-gained,ASPM
rs137852725,9,+,137814479,CTCCTCCAGCAACTGCATGTGCGGCCAGCTCAGCATGCGCTGCTGGTACGA,C>T,Q>*,stop-gained,EHMT1
rs1085307933,19,-,41984943,ATCGGCATCATCGTGGCCAATGTCCCAGAGGGTCTGCTGGCCACTGTCACT,C>T,P>L,missense,ATP1A3
rs760382778,4,-,5618564,CTTGGCCCTCCCCAAGATCCGGGCCCGAGTTCTGCTGCAGCAATTTCAGAC,C>T,R>*,stop-gained,EVC2
rs376103091,16,-,23544677,CATCCCGCCTGATGAGAGCCCCCGCCGGGGCGGTCCTGCTGGGCCCTACCA,C>T,R>W,missense,EARS2
rs780415493_1,2,-,178773540,TACTAAACAGCGACTAGTCATTAACCGAACTCATGCTTCAGACGAAGGACC,C>T,R>*,stop-gained,TTN
rs1060501082,15,-,48503811,TGAGTATGCATTTGGGGAACCTTGCCAGCCGTGTCCTGCACAGAATTCAGG,C>T,Q>*,stop-gained,FBN1
rs727505375,4,-,103658329,ACCAAGATTGTCATTGGAAGTATTTGGATTCTAGCATTTCTACTTGCCTTC,G>A,W>*,stop-gained,TACR3
rs886039447,6,-,3154668,ATGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACC,C>T,T>M,missense,TUBB2A
rs587776415,16,-,23630080,TCCCAAAAGGCCAAACTCGCAAAGCCAGCATACAAAGACGGGCCTTTCTTC,C>T,Q>*,stop-gained,PALB2
rs121918697,3,-,24127631,CTTGAATGGGGAAATGGCAGTGACACGGGGCCAGCTGAAAAATGGGGGTCT,C>T,R>W,missense,THRB
rs121908645,9,+,130480446,GAACCGCTTCATTGGAATGAAGTCCCGAGGTGAGTCTGCTCAGCCTCCCTC,C>T,R>*,stop-gained,ASS1
rs121908687,22,-,38112541,AGACGGGCGGGCTGTGGACCGGGCACGGGCCTGGTGCGAGATGGTCGGCAT,C>T,R>W,missense,PLA2G6
rs750621215,17,-,35101206,CATGGCGTGTCTGGCCAAATCTTCCCGACAGGTGAGCCAGCCCCAGGAAGA,C>T,R>*,stop-gained,RAD51D
rs794729274,2,-,178604127,ACCAAAGGATCAATGCTAGTGAGCTGGACTCCTCCTTTGGACAATGGTGGC,G>A,W>*,stop-gained,TTN
rs797045191,20,-,765615,GGTGGTCATCCAGCTGGCCAACATCGGGCCCCTCCTGGTCACCCTGCTCCA,G>A,G>R,missense,SLC52A3
rs104894666_1,19,+,2250667,GTCTCCGCAGAGCCTCTGCCCCTCCCGAGACACCCGCTACCTGGTGTTAGC,C>T,R>*,stop-gained,AMH
rs1466111134,21,-,36754341,TGGCCTGGACGATTCTGGCTTCCTCCAGGTTCACCAGGAGGGCGGCGAGGT,C>T,Q>*,stop-gained,HLCS
rs756036451,16,-,75479657,GCGCTCGGGCTCGTCCTTCGTGGGCCAACTCTTCAACCAGCACCCCGACGT,C>T,Q>*,stop-gained,CHST6
rs876657699_1,3,+,69959370,GCAACGCGCAAAAGAACTTGAAAACCGACAGAAGAAACTGGAGCACGCCAA,C>T,R>*,stop-gained,MITF
rs370499474,20,-,763775,TGACCAGGTCACCCTCCACTCCATCCGGCCGCGGGAAGAGAATGACTTGGG,C>T,R>W,missense,SLC52A3
rs765849229,5,+,90791195,AGATCCATCCAAATTAACATAACCCGGCTTGCTGGAACATTTGGAGATGTG,G>A,R>Q,missense,ADGRV1
rs121434352_1,17,-,75840317,CCCCGCCTGTCAGGACCTGCGCTGCCGAGAGGACCAGTGGTACCCCCTGGA,C>T,R>*,stop-gained,UNC13D
rs869312994,7,+,66092877,CTCCAGCGTCGACTGGCAGATCCGCCAGGTGCGGGCGCTACTGCAGGCACA,C>T,Q>*,stop-gained,ASL
rs111033664,9,+,34647244,CAACCCTCTGTGTCCTGGGGCCATCCGAGCCAACGGAGAGGTAAGCCTGTA,C>T,R>*,stop-gained,GALT
rs749593004,21,+,46122881,CATGTGTTCCCTGTCACAGGGAGGCCGAGGCGACTTTGGCTTGAAAGGAGA,C>T,R>*,stop-gained,COL6A2
rs387907347,14,-,68879987,AGCCAGGAGCAGATGAATGAGTTCCGGGCCTCCTTCAACCACTTTGACCGG,G>A,R>Q,missense,ACTN1
rs1131692154,6,+,33432700,TCCCCCCCAGCAAGGCTTCCTGAGCCGACGGCTAAAAAGCTCCATCAAACG,C>T,R>*,stop-gained,SYNGAP1
rs766657895,17,-,75830592,ACTCATCCGGAAGTACTTCTGCAGCCGAATCCAGCAGCAGGTGAGGCCCCT,C>T,R>*,stop-gained,UNC13D
rs137852691,11,-,132657203,CGTGTGATCATCCTGGTCAATACACCAACCCAGTACAGCATCATGATCCAA,C>T,P>L,missense,OPCML
rs1057518049,19,+,11041349,GCTGGAGGAGATCGAAGAGGAGGTCCGGCAGAAGAAATCATCACGGAAGCG,C>T,R>W,missense,SMARCA4
rs121917788,3,+,10043119,TTTGCCATCACGGTTACAGGCTTCCCAAGTAAAGTTGAAAAGTAAAGGACG,C>T,Q>*,stop-gained,FANCD2
rs80338761,17,+,77402298,CCCCAAGGCGGCCGAGCCGGTGTCCCGGCGCACTGAGCTGTCCATTGACAT,C>T,R>W,missense,Sep-09
rs776838028,2,+,218661896,GGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATT,C>T,R>*,stop-gained,BCS1L
rs786204777,16,+,57650297,ACTCCGTCGGAGGAAAATGACTCCCCAGTCGCTGCTGCAGACGACACTGTT,C>T,Q>*,stop-gained,ADGRG1
rs128626252,X,-,31929718,ACTGGTGGAAGAGTTGCCCCTGCGCCAGGGAATTCTCAAACAATTAAATGA,C>T,Q>*,stop-gained,DMD
rs587777553,17,-,81869230,CTCGCTTCGGGTCCTGCAGGTTAACCGAGAGATAGTGTCCGGCATGAAGTA,C>T,R>*,stop-gained,ARHGDIA
rs886063722,9,-,136677118,CTCCCAGGCCTCATGGAGGTCCTTCCGGAGCGCTGCGTGCAGATCGCCAAG,C>T,P>L,missense,AGPAT2
rs137853118,3,-,173019486,CTGGAGAGGTATTCAGAGGCTGCCCGGTATGTTTGTTTTAACTTTTGTGAG,G>A,R>Q,missense,SPATA16
rs797044867,13,-,110178196,AATAAAAGGAGAGAAGGGTTTCCCCGGATTCCCTGGACTGGACATGCCGGG,G>A,G>R,missense,COL4A1
rs768943773_1,1,-,154598557,TAAATTCCAGGTTGTCATCAATGGCCGAGAGTTTCCCCCAGCTGAAGCTGG,C>T,R>*,stop-gained,ADAR
rs75215331,9,+,133647906,ACAGCCAAGCTGCGGCGCTTCAACGCGGGGATCATGGAGCTGGGACTGGTG,C>T,A>V,missense,DBH
rs180177182,2,+,240869209,CAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGT,C>T,Q>*,stop-gained,AGXT
rs199422233,X,-,15331768,GGGAGGCGTGGAAAGCCACATTTACCAGCTCTCTCAGTGCCTGATTGAAAG,C>T,Q>*,stop-gained,PIGA
rs1057524341,12,-,115987172,CACGGGCAGGACCTGGGAGAACATCCAGCATGTGCAGGGACCACTCACTTG,C>T,Q>*,stop-gained,MED13L
rs367585605,1,-,11794385,TTGAAGTCTTCGTTCTTTACCTCTCGGGAGAACCAAACCGGAATGGTCACA,G>A,S>S,synonymous-codon,MTHFR
rs104894159,10,-,62813413,TGACTACTGTGGCCGAAAGTTTGCCCGGAGTGATGAGAGGAAGCGCCACAC,C>T,R>W,missense,EGR2
rs1060499797,1,+,108903149,AGAATTGGTGAAGGAAGAGCATGTTGGAGCTTAGGAAATGCATACACAGCA,G>A,W>*,stop-gained,GPSM2
rs137853207,7,-,50539926,GCTGTGCGGGGCCATTGGCTGCATCGGCTTCTCCTGGGTGAGGGTCCGGAT,G>A,G>S,missense,DDC
rs775932206,14,-,77298737,TGACGGTTTCTTCAGTTCTGCCTTCCAGGCCCGGCTTTCAGGGAACAACCT,C>T,Q>*,stop-gained,POMT2
rs1057523845,3,+,11017398,CATGTCCTGTGTGGGCTATGCCATCGGCCTGGGCAACGTCTGGAGGTTCCC,G>A,G>S,missense,SLC6A1
rs63751701,3,+,36993663,GCTATCAAAGAGATGATTGAGAACTGGTACGGAGGGAGTCGAGCCGGGCTC,G>A,C>Y,missense,MLH1
rs28931593,13,-,20189358,CACTACTTCCCCATCTCCCACATCCGGCTATGGGCCCTGCAGCTGATCTTC,G>A,R>Q,missense,GJB2
rs119103231,21,-,36765044,CCAGCATCTGATGTCCGTGGCTGTCGTGGAAGCAGTGAGGTCCATTCCCGA,G>A,V>M,missense,HLCS
rs80356772,1,-,155235195,TCTGCTGTTGTGGTCGTGCTAAACCGGTGAGGGCAATGGTGAGGTCTGGGA,G>A,R>H,missense,GBA
rs113994098,15,-,89321792,CATCCTGCCCCAAGTGGTGACTGCCGGCACCATCACTCGCCGGGCTGTGGA,G>A,G>S,missense,POLG
rs869320625,1,-,19243991,GTGTGGCGCCATGTTGACAAGGGCACGGCAGAAGGGGCTGTGGATGCCATG,C>T,T>M,missense,EMC1
rs606231459,5,+,150541651,CCGCTTCCCAAAGCTCCTCATCATCGGCCCCCAGAAAACAGGCAGGTCTCT,G>A,G>S,missense,NDST1
rs1057520858,X,-,53243445,GGTTGACAATGGTGAAGACATCCCCCGAGACCTCCTGGTGGGCATCTACCA,C>T,R>*,stop-gained,IQSEC2
rs387907126,16,+,29813772,ACACAGTGGGCATCCAGGATCTCCCCGAGGTAGCCTGAGCCGCCACCCCAG,C>T,R>*,stop-gained,PRRT2
rs587783285,1,-,197096082,AAGATTCAAGCCTGGTATAGATGTTGGAGAGCACACAAAGAATATCTAGCT,G>A,W>*,stop-gained,ASPM
rs765087147,19,+,40503978,GCAGCCGAAGGCTACTACGATATCCGGCGGGTGGCAGCCCAGCGTGACAGC,G>A,R>Q,missense,SPTBN4
rs45438205,16,+,2080365,CCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGG,C>T,R>W,missense,TSC2
rs28936388,16,+,56870119,AGGTGGCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTTGGGGG,C>T,R>W,missense,SLC12A3
rs80358828,13,+,32340314,TAGCACAGCAAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAA,C>T,Q>*,stop-gained,BRCA2
rs760270633,9,+,128220201,CACAGGCTACATTGGAGTGGTGAACCGGAGCCAGAAGGACATTGATGGCAA,C>T,R>W,missense,DNM1
rs111033220,7,+,107690203,GTGGCCACCACTGCTCTTTCCCGCACGGCCGTCCAGGAGAGCACTGGAGGA,C>T,T>M,missense,SLC26A4
rs863224860,2,+,189010732,TCGACTTCTCTCCAGCCGAGCTTCCCAGAACATCACATATCACTGCAAAAA,C>T,Q>*,stop-gained,COL3A1
rs879253988,11,-,9808128,CTTTTATAGGACACTTGAAGGCTTCCAGATGTTGGTTGAAAAAGAGTGGCT,C>T,Q>*,stop-gained,SBF2
rs751187394,6,-,44302486,CCGAGAGCTAGGCCAGAGCCTGGCCCAGGAAGTGAAAGCGGCCACTGAGCG,C>T,Q>*,stop-gained,AARS2
rs794728162,15,-,48537707,AAAAACGCTCTGCTGTGCCACAGTCGGCCGAGCCTGGGGCCACCCCTGTGA,G>A,G>S,missense,FBN1
rs63751657,3,+,37042331,CCAATTTTGGTGTTCTCAGGTTATCGGTAAGTTTAGATCCTTTTCACTTCT,G>A,S>S,synonymous-codon,MLH1
rs132630262,X,+,154379737,GAAGAAGATCTTCGAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCCAG,C>T,Q>*,stop-gained,EMD
rs267606653,11,-,44267607,CGTCTTGTAGGTCTGGTTCCAGAACCGAAGGGCCAAGTGGAGGAAGCGGGA,C>T,R>*,stop-gained,ALX4
rs369607332_1,2,+,71570679,TGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCG,C>T,R>*,stop-gained,DYSF
rs141945265_1,8,-,132632819,CAAGGAAGAGGCTCAGAGGAAACACCAAGAAGAGGATAAAAATGAAGACAA,C>T,Q>*,stop-gained,LRRC6
rs879254658,19,+,11106594,GGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCA,C>T,Q>*,stop-gained,LDLR
rs267606571,11,+,67490385,CACGCCGCTGCTGCTCAACTACTGCCAGTGCAAGCTGGTGGTCGAGGAGTA,C>T,Q>*,stop-gained,AIP
rs771373235,3,-,196306998,TTTCTTTCTAGAAATGGGATTTGACCGATACAAAATGGTGGTGCAAGTAGT,C>T,R>*,stop-gained,TCTEX1D2
rs377385081,17,+,18145938,GGAGAACATCTTCGGGAACTACATCGTGCAGAAGGGGCTGGCGGTGCCTGA,G>A,V>M,missense,MYO15A
rs749911553,15,+,74896208,TGGGGAGCTTTTGCTACAGCTGCACCAGCAGTACCCAGGTGATATCGGCTG,C>T,Q>*,stop-gained,MPI
rs370907055,1,+,108922468,TGAAGGGTTCTTTGACTTATTAAGCCGATTTCAAAGCAATAGGATGGATGA,C>T,R>*,stop-gained,GPSM2
rs121917971_1,2,-,166037885,TTCCACTCCTTCCTGATTGTGTTCCGCGTGCTGTGTGGGGAGTGGATAGAG,G>A,R>H,missense,SCN1A
rs63751466,7,-,5977629,CCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAG,C>T,R>*,stop-gained,PMS2
rs62642937,12,-,102843706,ACAGCCATCCAAAATTACACTGTCACGGAGTTCCAGCCCCTCTATTACGTG,C>T,T>M,missense,PAH
rs775565634,18,+,53339808,GACTCCTCCCTTGAACCCAAACATCGTGGTGCGAGGTTATATTATCGGTTA,G>A,V>M,missense,DCC
rs869312043,2,-,178636098,CAAGATTGTGGTGGAGAAACCTGGCCGAATTGTGCCAGGCGTCATTGGCTT,C>T,R>*,stop-gained,TTN
rs121913150,19,-,7120707,GACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCT,G>A,R>Q,missense,INSR
rs376280361,19,+,1221997,AAGAGGTTCTCCATCCGGCAGATCCGGCAGCACAGGTGAGCGGCCCCTGGG,G>A,R>Q,missense,STK11
rs387907092_1,17,+,80082020,CAACAAGACCACCAAATACTTCAACCAGCTCATCCTGAGGCTGCAGAAGGA,C>T,Q>*,stop-gained,CCDC40
rs1064797083,11,+,128810638,CAACATGAATTACGACAAGCTGAGCCGGGCCCTCCGTTATTACTATGATAA,C>T,R>W,missense,FLI1
rs28939701,16,-,16163087,GACGTTCCAGGGCAGCACAGTGGTCCGGGCATTCCGAACCCAGGCCCCCTT,C>T,R>W,missense,ABCC6
rs149226993,9,-,97684965,AGCAAAGGAAGTCCGACAGGAAAACCGAGAAAAAATGAAACAGAAGAAATT,C>T,R>*,stop-gained,XPA
rs200793488,19,+,11123263,CGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCT,C>T,R>*,stop-gained,LDLR
rs727503987,12,-,49049834,GGTCTCTACGGATGTTAGTCCAGCCCGAGATGAGGGCTCCCTACGGCTCTG,C>T,R>*,stop-gained,KMT2D
rs121908024,19,+,11100252,CGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTC,C>T,Q>*,stop-gained,LDLR
rs587782308,11,-,94478782,TCTGTGGAGAAGATAGACATTAGTCCGGTTTTGCTTCAAAAAGGAAGCACA,C>T,P>L,missense,MRE11
rs121909219,10,+,87957915,ATATTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCATGTACTT,C>T,R>*,stop-gained,PTEN
rs128624220,X,+,153736372,GACGGAGCTGGCTGGCTACACAGCCCGGGTGCACGAGATGTTCCAGGTATT,C>T,R>W,missense,ABCD1
rs267606907,14,-,23396329,ATCACGCGCATGCAGGCCCAAGCCCGGGGCCAGCTCATGCGCATTGAGTTC,G>A,R>Q,missense,MYH6
rs765659555,17,-,50189705,TGCTACTGGTTTCCCTGGTGCTGCTGGCCGAGTCGGTCCTCCTGGCCCCTC,G>A,G>S,missense,COL1A1
rs139964066,11,-,17402671,AACCGTAGAAGGACTCACCACCATCCGGGCCTTCAGGTACGAGTCCACATT,C>T,R>W,missense,ABCC8
rs74315343,1,-,179561328,AGAGTATGAAAGAGTAATTATATTCCGACTGGGACATCTGCTTCCTGGAAG,C>T,R>*,stop-gained,NPHS2
rs121908736,20,-,44626592,CCTTTCTTCCCTTCCCAGGGGCTGCCGGGAGGCTATCAAAAGGATCGCCTA,C>T,R>W,missense,ADA
rs374042455,3,-,43080674,TATGGCTTTGTGCAGCCCCAGGGCCCGAAGGCCAACATCCTCGTCTCAGGC,C>T,P>L,missense,POMGNT2
rs672601346,13,-,110179352,TCTTCCCGGCATTCCTGGCACACCCGGGGAGAAGGGGAGCATTGGGGTACC,G>A,G>R,missense,COL4A1
rs1236647498,9,-,36249276,CGTGCAGATTATTCTAAACTTGCCCCGATCATGTTTGGCATTAAAACCGAA,C>T,P>L,missense,GNE
rs863225296,16,-,89279362,CAAACGCCGCTTTCAGCGCTCCACCCAGCAGCTGCAGCAGCAGCTGAACAC,C>T,Q>*,stop-gained,ANKRD11
rs794727017,4,+,1003349,AGGACCGGCCACTGCGCCCAGGACCCGGTGGCCGCGGCGCCCCGCCCCTTA,C>T,P>L,missense,IDUA
rs80358529,13,+,32319283,GCAAGGGCTGACTCTGCCGCTGTACCAATCTCCTGTAAAAGAATTAGATAA,C>T,Q>*,stop-gained,BRCA2
rs768638173,17,+,31226474,ATGCAGCGGAACCCCCCCGATTTGCCGACAAGCCCAGACCAAACTAGAAGT,C>T,R>*,stop-gained,NF1
rs786202064,17,-,43071080,CCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTCATACTAC,C>T,Q>*,stop-gained,BRCA1
rs1064796472,21,+,33552565,GATGTCATCGTACTCTGCAGCTGACCGATCTATGATGTCATCTTATACTGC,C>T,R>*,stop-gained,SON
rs387907077,20,+,32435485,AGAACACATACCATCTGTTGAGCCCCAGGTTGGAGAGGAGTGGGAGAAAGC,C>T,Q>*,stop-gained,ASXL1
rs587776976,22,+,31792765,TTCAGATGAATTTCCTGAAATAAACCGAGCCTCAATTCGACAGGATCACAA,C>T,R>*,stop-gained,DEPDC5
rs727504096,6,-,52079920,GGTAAGCAGTCCAAATCCAGGACCACGAGATAGCTGTACTTTCAAGGTGGG,C>T,R>*,stop-gained,PKHD1
rs373345919,17,+,42909364,TGTGCAGCTGAATGTCTGTCTGTCACGAATCTACCTTGCTGCTCATTTTCC,C>T,R>*,stop-gained,G6PC
rs121909308,20,-,34935611,CCAGGAAATTGCTGTGGTTTACTTCCGGGATGGCTACATGCCTCGTCAGTA,C>T,R>W,missense,GSS
rs201424543_1,X,-,2938195,CGTGCCCGGGATCTTCCGCTGGCCCGGGGTGCTCCCGGCCGGCCGAGTGAT,G>A,G>R,missense,ARSE
rs756868889,6,+,116617053,AGAATCAACTCCTCATCACACAAGCCAGTCAGAAGGAAACACCTTTCAACA,C>T,Q>*,stop-gained,RSPH4A
rs768669208,19,-,43511466,TTCACTGGAGATGCCCTGTTGATCCGTGGGTGTGGGCGGACAGACTTCCAG,G>A,R>H,missense,ETHE1
rs267606902,16,-,15748092,GTGCTGGAAGGCATTCGCATCTGCCGGCAGGGCTTCCCCAACCGGATCGTC,G>A,R>Q,missense,MYH11
rs121434577_1,13,+,102854313,AGATGAAGCACTACCCAGTCTTACCCAAGTTCGAAGAGAAAACGACCTCTA,C>T,Q>*,stop-gained,ERCC5
rs762093483,17,-,59697726,GATGGGAAAAGGGAAAGTGGCTGCCCAGTGCTCTCATGCTGCTGTTTCAGC,C>T,Q>*,stop-gained,PTRH2
rs387907066,10,+,71362268,TACAACTTTGCTGACCTATGTGGCCGGCAGCTCACCGCCTGGATCCAGGTG,G>A,R>Q,missense,SLC29A3
rs386833974,13,+,76995980,CACAATGGAATGGTATGAACTTTTCCAACTTGGCAACTGTACATTTCCCCA,C>T,Q>*,stop-gained,CLN5
rs876658983,16,-,23626291,GCTTGCGAAGATGTAGTTTCTCTTTGGAAAGCTCTGGATGCTTGGCAGTGG,G>A,W>*,stop-gained,PALB2
rs1437309558,20,-,10642587,ATTTCTCCTAGACATCAATGAATGCCAGTCTTCACCTTGTGCCTTTGGAGC,C>T,Q>*,stop-gained,JAG1
rs201479289,10,+,49619743,CTTCCAGGGGCTGCCCAAACTGCCCGTGCCCCCGCTGCAGCAGACCCTGGC,G>A,V>M,missense,CHAT
rs398123000,15,+,92948970,TTTTCAGGCCCTGAAGCAGAGACCACGATTTGTAGCTTTAAAGAAACAACC,C>T,R>*,stop-gained,CHD2
rs397517327_1,10,+,71730595,AGTCATCGTGGTCCAAGCCACAGACCGAGACTCTGGTGAGGCTGGCAGGAG,C>T,R>*,stop-gained,CDH23
rs137852741_1,2,+,202556360,GAGGGAACGGCCACTAGAAGGTGGCCGAACTAATTCCAATAACAACAACAG,C>T,R>*,stop-gained,BMPR2
rs786204393,12,-,32850967,GCATCTGCTTCTTCCCCAGGTTAACCAGCTTCGTGGCATCCTCAAGCTTCT,C>T,Q>*,stop-gained,PKP2
rs746165168_1,5,+,233635,GTCTCGGTCCATGACTCTGGAGATCCGAGAAGGAAGGTGCGTGTGATTTAC,C>T,R>*,stop-gained,SDHA
rs1057518921,X,+,71132465,CCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCA,G>A,G>R,missense,MED12
rs267606702,17,-,78997249,TCAAGGGCCCAAGAGGAAAACACCTGGTTCAGTTACCTGAAAAAGGGCTAC,G>A,W>*,stop-gained,CANT1
rs1057516499,21,+,44286657,GACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAAC,G>A,W>*,stop-gained,AIRE
rs104886139,X,+,108597524,GCTTCCTGGTTTACCTGGCACTCCTGGACAGGATGGATTGCCAGGGCTTCC,G>A,G>R,missense,COL4A5
rs397514608_1,11,+,17613696,TCAGGTCACTATTGATCGCTTCAACCGAAAGGTGAGTGCATCAAACAGCCA,C>T,R>*,stop-gained,OTOG
rs398123513,19,+,41422739,CCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGAC,C>T,Q>*,stop-gained,BCKDHA
rs1472215562,5,+,69509814,GTATCACTACTGTGTTGTGGATCCCCAGGAGGTATGAGTGGTGTTTTGGGT,C>T,Q>*,stop-gained,OCLN
rs527236103,3,+,129531034,GGCCTGCGCCGCACCCCCACTCGCCGGCTGGTCCAGGTAATGGCACTGAGC,G>A,G>S,missense,RHO
rs104894124,9,-,124503353,CGAGGACCTGGACGAGCTGTGCCCCGTGTGCGGGGACAAGGTGTCCGGCTA,G>A,V>M,missense,NR5A1
rs1057517966,3,+,69959325,CTTAAAAGCATCCGTGGACTATATCCGAAAGTTGCAACGAGAACAGCAACG,C>T,R>*,stop-gained,MITF
rs886041363,X,+,22190458,TTTTTCTACAGGTGGTTTACAAATCCGACGACTGTCAATGCCTTCTACAGT,C>T,P>L,missense,PHEX
rs587777497,7,+,45713747,AAGGTGCCCCTACCACTTTGTGTGCCGAGGCAAAGTCAGTGTCAAGGGCAA,C>T,R>*,stop-gained,ADCY1
rs113994109,13,-,110179370,ACTCAAAGGTTTGCCAGGTCTTCCCGGCATTCCTGGCACACCCGGGGAGAA,G>A,G>S,missense,COL4A1
rs80359170,13,+,32380037,AGATGAAATTTTATTTCAGATTTACCAGCCACGGGAGCCCCTTCACTTCAG,C>T,Q>*,stop-gained,BRCA2
rs527236154,17,+,21703288,CTTCATGGTGGTGGCCCAGTCCATCGTGGGCTGCATCATCGACTCCTTCAT,G>A,V>M,missense,KCNJ18
rs121909119,4,-,76179596,ACTCACACAGTTGACGAATTGCTCTGGGGCTACAAAGATGAAATCTTGTCC,G>A,W>*,stop-gained,SCARB2
rs781036625,1,+,8325853,GGGCCTCTCGCTCTTGCTGAATGGCCGGGACATTGGCATCGCCCTGGCTGA,C>T,R>W,missense,SLC45A1
rs886041128,X,+,67686063,AAATGATTGCACTATTGATAAATTCCGAAGGAAAAATTGTCCATCTTGTCG,C>T,R>*,stop-gained,AR
rs528417986_1,15,+,42390016,TCTGAACATGGGGGAGTTGATTGCACGGATGGTAAGGAATATGGATAACTC,C>T,R>W,missense,CAPN3
rs199660234,3,+,30672249,GCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGA,C>T,R>W,missense,TGFBR2
rs1064797331,6,-,152293683,CCAGCAGAAGTACCAGGACTCCCTCCAGTCCATCTCTACGAAGATGGAGGC,C>T,Q>*,stop-gained,SYNE1
rs121918525,X,-,53537656,GCTGGAGCGTTTAGATGAGGGGCTCCGGAAAGAAGACATGGCTGTGCATGT,C>T,R>W,missense,HUWE1
rs121918188,9,-,94609998,ACCAGGCCGGAACCTGGTGGCAGCCGGCTACGCACTGTATGGCAGTGCCAC,G>A,G>S,missense,FBP1
rs864622772_1,X,-,149483006,TCCCCGTGAACTGATTGCCTATAGCCAGTATCCCCGGCCTTCAGACATCCC,C>T,Q>*,stop-gained,IDS
rs267607069,5,-,1411328,CCAGGGCTGATCTTCATCATCTACCCGGAAGCCATCGCCACGCTCCCTCTG,C>T,P>L,missense,SLC6A3
rs72653169,17,-,50188920,CCCCCCTGGATTGGCTGGACCCCCTGGTGAATCTGGACGTGAGGTGAGCAG,G>A,G>S,missense,COL1A1
rs1064794697,8,-,115414124,TGGACCTTTCCAGTGCAGCATATGCCAGCATCTTTGCACGGACAAATATGA,C>T,Q>*,stop-gained,TRPS1
rs1060502633,X,-,31478129,GGGCGATCTCCTCATTGACTCTCTCCAAGATCACCTCGAGAAAGTCAAGGT,C>T,Q>*,stop-gained,DMD
rs1057520673,17,-,44860033,CTTTGGATCTCAGGCTCAGATTTTCCGACCCTTGAAGTTCAATACCACATC,C>T,R>*,stop-gained,EFTUD2
rs104894810,X,+,71224131,GACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCAT,C>T,R>W,missense,GJB1
rs376823689,3,-,184352042,CTGCAAAATTGATCCTGCTCCCTTCCAGCTGGTGGAGCGGACCTCTTTGCA,C>T,Q>*,stop-gained,CLCN2
rs121907943,17,+,80118271,GGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGG,C>T,R>*,stop-gained,GAA
rs1064795620,2,-,166045045,TGAAAAGAGGTACTCCTCCCCACACCAGGTATGGCACTGCTGAGTTTACTG,C>T,Q>*,stop-gained,SCN1A
rs749465164_1,15,+,84857913,TGGCCGCCAGGCCCTTGCTGCTGCCCGAGGCTCCTGGGGTCCTGGTCCCAG,C>T,R>*,stop-gained,ALPK3
rs794728631,11,-,64804507,GCCGGAGGGTCCAGTGCTCACTTTCCAGAGTGAGAAGATGAAGGGCATGAA,C>T,Q>*,stop-gained,MEN1
rs869312873,13,-,101089846,ATGTTATTATTCATCGTGTGGGGCCGGTAAGCGAGCACATCGAATCCTTTG,G>A,P>P,synonymous-codon,NALCN
rs199638531,11,+,121146096,ACTCAGGGGATTACGGTGACTGGCTGGAGGAATTACACGTCCTGCAGTGAG,G>A,W>*,stop-gained,TECTA
rs780495441,2,-,189066461,TATTCAGGGTCCGATAGGCCCACCCGGTGAAGAAGGCAAAAGAGGTCCCAG,G>A,G>S,missense,COL5A2
rs1004428835,16,+,88427489,AGGGGCCATGCCTGGGGAGCGCCCCCGAGGAGCGCCGCCCCCCACCATGAC,C>T,R>*,stop-gained,ZNF469
rs727503329,11,+,77190838,CAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTT,G>A,G>R,missense,MYO7A
rs376078668,9,-,108878731,TAACAGGAGATCATCCAAGAATCGCCGAAAAGCGGAGCGGAAGAAGCACAG,C>T,R>*,stop-gained,ELP1
rs587779711,2,+,188988617,ATCTCCAGGATACCAAGGACCCCCTGGTGAACCTGGGCAAGCTGGTCCTTC,G>A,G>S,missense,COL3A1
rs104886228,X,+,108665560,TATTAGTGGCCCTCCTGGGAACCCCGGCCTTCCAGGAGAACCTGGTCCTGT,G>A,G>S,missense,COL4A5
rs1476130680,9,+,422056,CATTTCTTAACTCCTAGGGAACGACCGATTTCCAGGCCTAAATGAAAATTT,C>T,R>*,stop-gained,DOCK8
rs201330912,3,-,184354113,CTGCCCTACCTGCCTGAGCTCGGCTGGGGCCGCCACCAGTACGGAGGGCTG,G>A,W>*,stop-gained,CLCN2
rs201892914,11,+,77179085,GCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTG,C>T,Q>*,stop-gained,MYO7A
rs202246074_1,16,+,70142278,GGTTCCCCGCTGGGACTTCCAGACCGGTAGGCAGTTACGCACCTCTCCTCT,G>A,G>S,missense,PDPR
rs386833531,9,-,6587205,AGCTCAAGGATATCAGCAGCTTTTCCGAGAGCTTGAGAAGGATTTGTGTGA,C>T,R>*,stop-gained,GLDC
rs1269642027,1,-,215844433,AACAGTACAGCTGTACGTGTCATCTGGACATCTCCTTCAAACCCAAATGGT,G>A,W>*,stop-gained,USH2A
rs1085307355,2,+,202552753,CTCAAGGAGACAATCGAAGACTGTTGGGACCAGGATGCAGAGGCTCGGCTT,G>A,W>*,stop-gained,BMPR2
rs28939679,11,+,68033147,ACCCTGAGCTACCTGTTCCGGGAACCGGCCACCATCAACTACCCGTTCGAG,C>T,P>L,missense,NDUFS8
rs387906511,20,-,3084620,CCTCGGCCTACTGGCCTTCTCCTCCGCGTGCTACTTCCAGAACTGCCCGAG,G>A,A>T,missense,AVP
rs1477101279_0,2,-,178599748,GGTGTGCCATTCCCGACACTAACCTGGTTTAAAGCTCCTCCAAAGAAGCCT,G>A,W>*,stop-gained,TTN
rs184469579_1,1,-,39883470,TAAGATGGCGTCCGTGGCGGCTGCACGAGCAGTTCCCGTGGGCAGTGGGCT,C>T,R>*,stop-gained,TRIT1
rs761493155,22,+,40361634,ACGCACACTGGATGATAGTGCCAACCGGTCAGTGGCACAGGGACATCACAT,C>T,R>*,stop-gained,ADSL
rs369656775,16,+,1497457,TGCTGGCGCCTGGTGGAGCAAGTGCCGGACCGGGCCATGGAGGCTGTGCTG,C>T,P>L,missense,TELO2
rs758304537,10,+,97584911,GCACAAACTGGGCACCTTCCCCTTCCGAGGTAAGTGGGGCTGTCCTCTGTG,C>T,R>*,stop-gained,HOGA1
rs370865377,19,-,11383104,CCCGGGCAACTACAGCTTCTCCTACCAGCTCGAGTGAGTCCGATCCGGCGG,C>T,Q>*,stop-gained,EPOR
rs863225241,1,+,155317996,ATCATGGATTCATCCCTTACCCGCCGGGGACAGATCTGCTGGTATCAGAAG,G>A,R>Q,missense,FDPS
rs121908097,2,+,218814702,TCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCA,G>A,R>Q,missense,CYP27A1
rs752143706,1,-,42927147,TTCAAAGTTCCTGAGACTAAAGGCCGGACCTTCGATGAGATCGCTTCCGGC,G>A,R>Q,missense,SLC2A1
rs150203483,17,-,6695759,CGAGACCCCGGCTTCATGCCCGGCTGGCTGACTGTTGCCTGGGTGGAGGGT,G>A,W>*,stop-gained,SLC13A5
rs772988029,11,-,119098033,TCTTCCCCCACACAGGTACCCATCACGGGTGTTTGTGGGAGATACCTTCTG,C>T,R>W,missense,DPAGT1
rs111033280,1,-,216327637,ATTTGCAGGTTTAGAGCAGTTTGTCGGAAGAATGCAAGATTTTCGATTATA,G>A,G>R,missense,USH2A
rs1057519630,16,+,2496552,GACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCAC,C>T,P>L,missense,TBC1D24
rs267606790_1,13,+,113116822,AGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGT,C>T,Q>*,stop-gained,F7
rs1057523157,3,-,47088172,TAAAAACCAGGTGCTCAGCTTATCCCGGCTAATGGTTAGAATTGAAACTTT,C>T,R>W,missense,SETD2
rs1060499709,17,+,56856582,ATGGCTCTCAATTTTCATGCTCATCGTGAGAAGGCACCATCTCTGTTTTCT,G>A,R>H,missense,DGKE
rs200002200,1,-,152308777,ATCTGCAGTCAGAGACAGTGGACACCGAGGGTACAGTGGTAGTCAGGCCAG,C>T,R>*,stop-gained,FLG
rs397515582,2,-,26483581,GGCCCGGTTCTATGTGAAAATTTACCGAGCAGAGGGGCTGCCCCGTATGAA,C>T,R>*,stop-gained,OTOF
rs121434493,19,-,18069609,TTGCATTGAATGGCAGCCTGTGGGCCAGGACGGGGGCCTTGCCACCTGCAG,C>T,Q>*,stop-gained,IL12RB1
rs1057516150,3,-,138946430,TTCTACGAGAAGAATAAGAAGGGCTGGCAAAATAGCATCCGCCACAACCTC,G>A,W>*,stop-gained,FOXL2
rs104894401,13,-,20189154,ACCTACACAAGCAGCATCTTCTTCCGGGTCATCTTCGAAGCCGCCTTCATG,G>A,R>Q,missense,GJB2
rs121909492,9,+,126693527,TGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGG,C>T,R>*,stop-gained,LMX1B
rs183487020,15,-,28022554,TTACAGATTTTGTTCAGCCTATATCCGGATCAAGGAAAGCTCTGGCAGCTG,C>T,P>L,missense,OCA2
rs587776995,3,-,68987467,ATTCTTGCACGGAGCACAGAATACCGGAAAATCCTTAACCAAAATGAGGTT,G>A,R>Q,missense,EOGT
rs267607003,10,+,110812310,CCAGAAAGGCCGCGGTCTCGTAGTCCGGTGAGCCGGTCACTCTCCCCGAGG,C>T,P>L,missense,RBM20
rs1064796618,9,-,95461858,CCGCGATAAGCCCATCGACATCAGCCAGGTACTCCAGCTGCTGGGCACTGA,C>T,Q>*,stop-gained,PTCH1
rs377046630,4,+,78252452,GTGCTCTTGCAATCATGGGGAAGTCCGATGTACCCCCCAACCATGCCCACC,C>T,R>*,stop-gained,FRAS1
rs121908311,1,-,155235823,CTAGAACCTCCTGTACCATGTGGTCGGCTGGACCGACTGGAACCTTGCCCT,G>A,G>S,missense,GBA
rs121918141_1,2,+,127428602,GACGGGCTGGGGCTACCACAGCAGCCGAGAGAAGGAGGCCAAGAGAAACCG,C>T,R>*,stop-gained,PROC
rs587784173,5,+,177283790,GTAGCTTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCCAAAGG,C>T,R>*,stop-gained,NSD1
rs104894078,8,+,74360184,TGATAAAGAAAGCATGTATTACCCACGGGTACAACATTACCGAGAGCTGCT,C>T,R>W,missense,GDAP1
rs753706965,14,+,24098591,GGTGGCAAGCATGCGTATTATGACCCGACTGGGGACACCTGTGCTTCAGGC,C>T,R>*,stop-gained,PCK2
rs397514629,2,+,113062577,GCCTACCCGGGCTGGTTCCTGTGCACGGTGCCTGAAGCCGATCAGCCTGTC,C>T,T>M,missense,IL36RN
rs122461161,X,+,29955189,CCAAATTACGTAGTTAGAAGGGGCTGGAGCATCTTTGAGCTGGAAACCAGA,G>A,W>*,stop-gained,IL1RAPL1
rs267606992,1,-,161077629,CCAGCCCCCAGCGTGACCTGGGACACGGAGGTCAAAGGCACAACGTCCAGC,C>T,T>M,missense,NECTIN4
rs386833623,10,-,124401749,ATACGGTGGCAATCCACTAGGCTGCCGAGTGGCCATCGCAGCCCTTGAGGT,C>T,R>*,stop-gained,OAT
rs121913387_1,9,-,21971187,GCAGGTCATGATGATGGGCAGCGCCCGAGTGGCGGAGCTGCTGCTGCTCCA,C>T,R>*,stop-gained,CDKN2A
rs587782050_0,16,-,23603544,CTCCCACCTGTCTCTGACCAACATTGGTCTTTTGTGAAATGGTCGGGTACA,G>A,W>*,stop-gained,PALB2
rs118192176,19,+,38494579,CGGCCAGATCCGCTCGCTGCTCATCGTGCAGATGGGCCCCCAGGAGGAGAA,G>A,V>M,missense,RYR1
rs886041218,5,+,177273743,AGAGCTAAGACAGCTGCAGGAAGACCGAAAGAATGACAAGAAGCCACCACC,C>T,R>*,stop-gained,NSD1
rs281865028_1,12,-,101764384,ATCTCTGATTGTTCCACTGGAAAGCCAGATGACAAAAGAAAAGAAAATCAC,C>T,Q>*,stop-gained,GNPTAB
rs104894581,17,+,70175596,GCAGTCATGGCCAAGATGGCAAAGCCAAAGAAGAGAAACGAGACTCTTGTC,C>T,P>L,missense,KCNJ2
rs886039550,15,-,48520764,TCTGACAAACGGGCGCTGCTCTAACCAGCTGCCACAGTCCATAACCAAAAT,C>T,Q>*,stop-gained,FBN1
rs367543028,15,+,90765319,AGGAGGTGGTAAGAGTTTGTGTTACCAGCTCCCTGCCTGTGTTTCTCCTGG,C>T,Q>*,stop-gained,BLM
rs755750961,4,+,78364051,CTATCTTGATGACAATCATGTTTGCCAGCGTAGGTTTTTCCAATGAACCTT,C>T,Q>*,stop-gained,FRAS1
rs199422213,14,-,94382912,CTGGAGGGCCTGAATTTCAACCTCACGGAGATTCCGGAGGCTCAGATCCAT,C>T,T>M,missense,SERPINA1
rs786204540,11,-,2165284,GCAGCCCTACCAAGACCAGACGTACCAGTCAGTCTACTTCGTGTCTGAGAG,C>T,Q>*,stop-gained,TH
rs367699137,14,-,24260028,ATTGTGTACGTGGACCATGAGGATTGGCGGCAGGAGTATGTTCTTAATGAG,G>A,W>*,stop-gained,TGM1
rs1057518532,19,-,13285077,TATAGCTCCATGTTCATCCTGTCCACGACCAACCCGTGAGTATGGCCCCCA,C>T,T>M,missense,CACNA1A
rs149712244,22,-,38116155,CAGCCGGCTGAACTCCACCTCTTCCGGAACTACGATGCTCCAGAAACTGTC,G>A,R>Q,missense,PLA2G6
rs375682284,9,-,35095202,TCAGCCCCACCATGCCCGGCTCTACCGATCTCAGGTTGACCCTCCTACCAC,C>T,R>*,stop-gained,PIGO
rs121917888,X,+,11120974,AGCAAAAGAGTATTCACCAAGGGCACGAATTCGTTCCTGGATGGGGTGAGT,C>T,R>*,stop-gained,HCCS
rs1057518128,15,+,92927289,TGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATT,C>T,R>*,stop-gained,CHD2
rs72653706,16,-,16163078,GGGCAGCACAGTGGTCCGGGCATTCCGAACCCAGGCCCCCTTTGTGGCTCA,C>T,R>*,stop-gained,ABCC6
rs886039880,17,-,50186387,CAGCCCAGTGTGGCCCAGAAGAACTGGTACATCAGCAAGAACCCCAAGGAC,G>A,W>*,stop-gained,COL1A1
rs1064794793,7,-,150950983,CCACCAGATCCCCAATCCCCTGCGCCAGCGCCTCGAGGAGTACTTCCAGCA,C>T,Q>*,stop-gained,KCNH2
rs61750643,1,-,94005476,ACGAGAACATCTTTACCTTTATGCCCGGCTTCGAGGTGTACCAGCAGAAGA,C>T,R>W,missense,ABCA4
rs1085307346,2,+,202542431,CAGAGACCCAAGTTCCCAGAAGCCTGGAAAGAAAATAGCCTGGTAAGAAAA,G>A,W>*,stop-gained,BMPR2
rs756998699_1,3,-,48898785,GACAGACGGACTGACCATGGCCGACCAGCCAAAACCCATCAGCCCGCTCAA,C>T,Q>*,stop-gained,SLC25A20
rs119472026_1,15,-,45108887,TGTGGCCAGCAGCATCCAACGTGGCCGAGATATGGGGCTGCCCAGCTATAG,C>T,R>*,stop-gained,DUOX2
rs29001566,3,+,129533711,AAGACGGAGACGAGCCAGGTGGCCCCGGCCTAAGACCTGCCTAGGACTCTG,C>T,P>L,missense,RHO
rs774903187_1,7,+,21899361,GTTCAATGACCTCCTCCTGCGATGCCGAGAACTCGATACTTGGACACAAGA,C>T,R>*,stop-gained,DNAH11
rs754786301_1,16,-,57917306,CTACTTCCTGGACATCACCGTGTTCCAGACACGCCTGCAGTTTGTCAGAGG,C>T,Q>*,stop-gained,CNGB1
rs387906627,16,+,31191052,CCGCGGCGGGGACCGTGGAGGCTTCCGAGGGGGCCGGGGTGGTGGGGACAG,C>T,R>*,stop-gained,FUS
rs746217361_1,1,+,150511475,GCTCTAGTGGGAGGAAGCAATGAGCCGATTCTGTGAGGCCGAGTTCTCGGT,C>T,R>*,stop-gained,ECM1
rs875989884,X,-,153866700,GATCAAAGTCCAGGCCGTCAACAGCCAGGGCAAGGGACCAGAGCCCCAGGT,C>T,Q>*,stop-gained,L1CAM
rs749299357,2,-,227043167,TTCTTTAGGGCATTTTGGAGCATCCGGAGAGCAGGGCTTGCCTGGTATTCA,G>A,G>R,missense,COL4A4
rs121964894,12,-,6036488,CTTTTGGATTCTTTTCTCTTAGGTCCGGCATGAGAACAGATGTGTGGCCCT,C>T,R>W,missense,VWF
rs121912749,17,-,44260501,AGACCTGCAAGAGACCTCCCTGGCTGGAGTGGCCAACCAACTGCTAGACAG,G>A,G>R,missense,SLC4A1
rs121918717,14,-,24259720,CGTGGAGACCCAGTCAATGTCTCCCGGGTCATCTCTGCCATGGTGAGCACC,G>A,R>Q,missense,TGM1
rs794726710,2,-,166013812,GTGGAACCTGAGAAGGACGTGTTTCCGAATAGTTGAACATAACTGGTTTGA,C>T,R>*,stop-gained,SCN1A
rs121909258,3,+,122284337,CTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGA,C>T,R>W,missense,CASR
rs119471023_1,22,-,26468571,CCTCACCGCCAAGGTCCTGCTTCACCGAACAGCACCTCAGGAGCAGGTATT,C>T,R>*,stop-gained,HPS4
rs771663107,5,-,13865675,AATTAACAATGAACTCTTAGAATTCCAGAACAGGTAAGAAATTAAATGTTT,C>T,Q>*,stop-gained,DNAH5
rs751128300,16,-,53649068,TTTTGGCACAGTGGAATACTGGTTCCGATTAAGAGTTCCCATGGATCAAGC,C>T,R>*,stop-gained,RPGRIP1L
rs879253769,2,+,27055171,CTTCATCCTCCGACCTGATGATCCCCGGGCCCAAACCCTCCGTCGCCTCTT,C>T,R>W,missense,AGBL5
rs765129583,19,+,17338109,GGCCGCTGCGGCATCGCAGTGATCCGGACCAGCGGCCCCGCCAGCGGCCAC,G>A,R>Q,missense,GTPBP3
rs104894430,13,+,40799080,AGGAGGTACAGCATGTGTACTGACCGGGCAGCCCTTTGACACAATGAAAGT,G>A,G>R,missense,SLC25A15
rs1057518650,X,-,80745592,ATCTGTCTACTGTGTAGCATTTGACCGAAGCGGGAGAAGAATTTTTACAGT,C>T,R>*,stop-gained,BRWD3
rs367870620,1,+,150504669,CCTGGAGCGTCCAGTCCTCATTCACCGAGCAGTGCTCGGTTCTGTGGAAAG,C>T,R>*,stop-gained,TARS2
rs572115942,16,+,30756714,AACCTCACCCCCCGCCAGCGGTTCCGGGTAAGCCTGAGTGTATCAGGGTCT,G>A,R>Q,missense,PHKG2
rs111033417,1,-,215674598,ACAGCTAGTGTGTCAAAATCTGCCTGGACAATGGAGGCCCTGCCAGAGAAC,G>A,W>*,stop-gained,USH2A
rs267606772,19,+,10793799,TCAGGTGGACACTCTGGAGCTCTCCGGGGGCGCCCGAATCAATCGCATCTT,G>A,G>R,missense,DNM2
rs137853860,1,-,23796777,ACACACTCCCTTCTCTGCAGGTGTCCGGGATTACATCCATGTCGTGGATCT,C>T,R>W,missense,GALE
rs63750140,2,+,47800798,AGCAGGCTTTGACTCTGATTATGACCAAGCTCTTGCTGACATAAGAGAAAA,C>T,Q>*,stop-gained,MSH6
rs1135401823,19,+,42289013,TGGGGGACCTGGCTCAGCCCGGCCCCGAGCTTTCTCCCACAGCGGGGTACA,C>T,R>*,stop-gained,CIC
rs104886405,X,+,108681867,TGGGCTAAAGGGTCTACCAGGACCCCAAGGACCTCAAGGCTTACCAGGTAC,C>T,Q>*,stop-gained,COL4A5
rs267607078,6,+,107634825,CGTCATCGACCTGACCGTGGGCCACCGAGCCCGGCTGCACAACGTGATCCA,C>T,R>*,stop-gained,SOBP
rs370627877,7,-,16376133,CAGACACAGAGCAAGTGAAATGCCCCAAGCTTTTCTATTTGATGTGATTTA,C>T,Q>*,stop-gained,ISPD
rs869025309,12,+,131941630,CCAGAGCTTCATGATGCATCAGATCCGGAAGATGGTCGGCCTGGTGGTGGC,C>T,R>W,missense,PUS1
rs137853227,3,+,50256263,ACACAGCAAGATGTGCTACGGACCCGCGTAAAGACCACGGGGATCGTGGAG,G>A,R>H,missense,GNAI2
rs886039331,16,-,3729037,GGCCCCCGTGAGCCTGAATGTGCCCCGACCCAACCAGGTGAGCGGGCCCGT,C>T,R>*,stop-gained,CREBBP
rs398123224_1,X,-,101398468,TCCTTTATTCATGTCTAATGACCTCCGACACATCAGCCCTCAAGCCAAAGC,C>T,R>*,stop-gained,GLA
rs768047421,4,+,3131647,GGTGATTTCTTGGCAGTGCTGGTTCCGGACAGGGATGTGAGGGTCAGCGTG,C>T,P>L,missense,HTT
rs28928906,15,+,74897050,ATGGCGTGTTCAGACAACACAGTTCGTGCTGGCCTGACACCCAAGTTCATT,G>A,R>H,missense,MPI
rs757888349,17,+,50167644,CCTCCAGGGACACCCAGACCTGCCCCGGTGGCTCCGCTACACCCAGCGCAG,C>T,R>W,missense,SGCA
rs200672668,2,+,227273108,AGTTCCTGGAGCCCCCGGACCACCCGGAGAAGCCGGTTGGTTAGTTTTCTT,G>A,G>R,missense,COL4A3
rs121918380,11,-,110263964,CCTGGCTAATGATAGACTCCTACCCCAGCGGTAAGTGAAACATGCGTTTGC,C>T,Q>*,stop-gained,RDX
rs755747010,1,+,99870764,AACTATTGACATTTTTCAGTCCATCCGAAAAATAATTTGGGAGGATATTTT,C>T,R>*,stop-gained,AGL
rs72658200,7,+,94424345,TTTTTTCTCTATTTAGGGACCTCCTGGCACTCCAGGTCCTCAGGGTCTTCT,G>A,G>S,missense,COL1A2
rs104893722,3,+,190404905,TAAAGTCCGCATCTGCTTTGTTGCTGGAGCCACGTTACTAATAGCAGGTAC,G>A,G>R,missense,CLDN16
rs147579680,12,-,63624124,GCATTTTGTTGATTTCAGGCCACCCGTGTGATGTGGACACCACCTCTCCGT,G>A,R>H,missense,DPY19L2
rs1453934366,2,-,43982330,AGGAAGATTTCCAATCAGTTTGATTGGGCTCTAATGAGACTAGATCTTTCT,G>A,W>*,stop-gained,LRPPRC
rs515726177,1,+,53210126,TCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCC,G>A,R>Q,missense,CPT2
rs766589610,11,+,68357846,CCGTGCCAACCTGGACGGCTCGTTCCGGTAGGTACCCACGCAGTCCTGGGG,C>T,R>W,missense,LRP5
rs1064797038,22,+,41117411,TGGCCCAGGTCAAGTCATGGCCAGCCAGGCCCAACAGAGCAGTCCTGGATT,C>T,Q>*,stop-gained,EP300
rs28941473,7,+,66086751,GCCCCTGGCTTCCCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCG,G>A,V>M,missense,ASL
rs61754424,X,-,154032538,CTTCAGGGAAGAAAAGTCAGAAGACCAGGACCTCCAGGGCCTCAAGGACAA,C>T,Q>*,stop-gained,MECP2
rs121908420,11,+,134261786,TATGGCAACAAGGCTGGTGGCCGCGCGGCTGATGGTCCGCAATGCAGCAGT,C>T,R>W,missense,ACAD8
rs113994033,2,-,27366880,GCTTGGACAGAGGGCCGGCGGTTTCGGGTGGTAGTGGTGGACAGCCGGCCA,G>A,R>Q,missense,EIF2B4
rs74315357_1,1,+,20639952,GAGCCAGGAGCTGGTCCCAGCGAGCCGAGTGGCCTTGGCTGGGGAGTATGG,C>T,R>*,stop-gained,PINK1
rs769327864,3,-,45835591,GACAGACATCTCTGAACTTGAAAACCGGTAATAAAATTTGAACTTGCAACT,C>T,R>*,stop-gained,LZTFL1
rs370244148_1,1,+,112514896,CAGGTACATTGGGGCACTGGGGGCACGAGTGATCTGTGACAATATCCCTGG,C>T,R>*,stop-gained,WNT2B
rs730882029,17,-,7670685,TGGGCGTGAGCGCTTCGAGATGTTCCGAGAGCTGAATGAGGCCTTGGAACT,C>T,R>*,stop-gained,TP53
rs118204060,8,+,19954279,CCAGTTGGGCATGTTGACATTTACCCGAATGGAGGTACTTTTCAGCCAGGA,C>T,P>L,missense,LPL
rs878855300,5,-,1279323,CACCTTCGTGCTGCGTGTGCGGGCCCAGGACCCGCCGCCTGAGCTGTACTT,C>T,Q>*,stop-gained,TERT
rs1060499809,22,+,37724003,AGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTC,C>T,Q>*,stop-gained,TRIOBP
rs200934080_0,X,-,77895397,AGAGGAGCGAACATGGCAGCGCGTTGGCGGTTTTGGTGTGTCTCTGTGACC,G>A,W>*,stop-gained,MAGT1
rs1131691627,14,-,21393692,AGAGCACGAGGTGGTGGCCAGGAGCCGACCAACCCCACAAGACTATGAGAT,C>T,R>*,stop-gained,CHD8
rs760929179_1,2,-,43820072,GCTGGGCTTACATCCTGAGGTTGCCCGATTTGGATATTTTTCTGCTGCTCT,C>T,R>*,stop-gained,ABCG5
rs121908523,2,+,240868986,CCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCAT,G>A,G>R,missense,AGXT
rs121908098,2,+,218814701,CTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGC,C>T,R>W,missense,CYP27A1
rs387907284,15,+,66781288,GAGCACCCCATCTTCGTCAACTCCCCGACGCTGGACGCGCCCGGCGGCCGC,C>T,P>L,missense,SMAD6
rs797046033,18,-,55234623,AGGCAGCCATTCTCTTCTGCCAAACCAGGTTCCGGTTCCACAGCTTCCTGT,C>T,Q>*,stop-gained,TCF4
rs587781363,11,+,108345797,ATATGAAGTCTTCATGGATGTTTGCCAAAATTTTCAACCAGTTTTCCGTTA,C>T,Q>*,stop-gained,ATM
rs769896492,6,-,42966813,CTATGCCCTTCTGACCCACAGCAGCCGGGCAGCCTGCACCAGGATCAAGAA,C>T,R>W,missense,PEX6
rs111033270,10,+,71779316,AACGACAATGTGCCTACCTTCCCCCGGGACTATGAGGGACCATTTGAAGTC,G>A,R>Q,missense,CDH23
rs137852840,9,-,114504495,TCGTCTGGTCATCCCGCGCTCCGACCAGCTGCTCTTCGACCAATACACGGC,C>T,Q>*,stop-gained,WHRN
rs879253862,1,+,11997348,CCACCAGGACAAGCAGCTCCATGCCGGCAGCCTAGTGAGTGTGATGTGGCC,G>A,G>S,missense,MFN2
rs1064797281,2,-,201726688,AAGGATGCCACCTATGATGGACGCTGGCTTTCAGGGAAGCCTCATGGCAGG,G>A,W>*,stop-gained,ALS2
rs1064793765,18,+,33743212,GCATCAAGCTCGAGCCCATCTCTTCCAGACCTCTAAAGAGACCCGGTTGCC,C>T,Q>*,stop-gained,ASXL3
rs876657634,10,+,119672477,GCAGCAGGGGGAGTACCAGACCCACCAGCCTGTGTACCACAAGATCCAGGG,C>T,Q>*,stop-gained,BAG3
rs1057519350,14,+,73959204,AGCCTGGCAGAGATTTCTTCCCTCTGGGCCTATTGCTCTGCTCCCGGTAAG,G>A,G>R,missense,COQ6
rs104894066,8,-,142879080,CCCCACAGGATGAGCCTGGAGCCCTGGGTGGCCTACAGACAACATCGTGGG,G>A,W>*,stop-gained,CYP11B1
rs886039392,3,+,4645678,GCACGTCTTCCTGAGAACCACGGGCCGGCAGTCGGCCACATCTGCCACCAG,C>T,R>W,missense,ITPR1
rs1057524191,16,+,2496269,GCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGC,C>T,Q>*,stop-gained,TBC1D24
rs930688767,11,+,17610356,CAGGACAGGGGTCCCCCAGCCCACCCAGGCCCAGAGTGCTTCAAGTCCCAG,C>T,Q>*,stop-gained,OTOG
rs1297688787,8,+,19955849,GTCTCTTTTTTACCCAGATGTGGACCAGCTAGTGAAGTGCTCCCACGAGCG,C>T,Q>*,stop-gained,LPL
rs45517259,16,+,2076142,TTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACT,G>A,R>Q,missense,TSC2
rs1057518837,17,+,47299316,GGGCTGTGTGTTTTCAGGCCATGGCCAGTGCAGCTGTGGGGACTGCCTGTG,C>T,Q>*,stop-gained,ITGB3
rs1057521066,1,-,42929616,CATCGCTGTGGTGCTGCAGCTGTCCCAGCAGCTGTCTGGCATCAACGCTGT,C>T,Q>*,stop-gained,SLC2A1
rs369587937_1,20,-,36905450,TACTGATCCCAAATTGAAAGACGCACGAGAGATTTTAAAACAAATTGAATA,C>T,R>*,stop-gained,SAMHD1
rs200750564,2,+,176094518,AAATCAGCCGGACATGTGCGTCTACCGAAGAGGGAGGAAGAAGAGAGTGCC,C>T,R>*,stop-gained,HOXD13
rs730882158,2,+,232523524,CGGCTGCGGGGAGCCAGGGAAGCCCGGGGTCTACACCCGCGTGGCAGTGTT,G>A,G>R,missense,PRSS56
rs121912851,3,-,48567736,AGAAGCTGGTCCCCCAGGCCGCCCCGGGCTGGCAGGACACAAAGGAGAGAT,G>A,G>R,missense,COL7A1
rs1064795759,22,+,50722235,GCCTGCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGA,C>T,Q>*,stop-gained,SHANK3
rs201951824,7,-,50476625,TCTCCAGGGCTTATCACTGACTACCGGGTAAGTGGGAGATTCCACTGTAAT,G>A,R>Q,missense,DDC
rs745776920,6,+,73363259,CATGAACCTGGCTGACTATCACCGCCAGCTCCAGGCGAAAGGTACGGGGCT,C>T,Q>*,stop-gained,KHDC3L
rs1029096863,4,+,145646009,AGGATCACTCTTAGGTGATAAAACCCGAATGACTGAGTTATCAAGAGATAT,C>T,R>*,stop-gained,MMAA
rs140743001,2,-,178630250,CAATGTTAAATCTAGTGCCCACCTCCGAGTTAAGCGTAAGTATTGTATATT,C>T,R>*,stop-gained,TTN
rs796052117,6,-,158993853,AATTCGAGGTAACACTTATGCACTCCAGACAGGGCCACTGGTAAGTTCAGT,C>T,Q>*,stop-gained,RSPH3
rs672601317,7,+,117536634,ATCCAATCTGTTAAGGCATACTGCTGGGAAGAAGCAATGGAAAAAATGATT,G>A,W>*,stop-gained,CFTR
rs786205478,12,-,49033310,GTCCCCTCAACCACCCCAGGGGCCCCAGGGCATGCTGGGCCCTGCCCAGGT,C>T,Q>*,stop-gained,KMT2D
rs1064795307,7,-,2913383,ACGCGCCTTCTACTGCGAGCGCCGCCGGCCCGTGCTCTTCACACCCACCGT,C>T,R>W,missense,CARD11
rs876657389,1,-,110603569,GCAGGTGTGTTAACTATTGCCTTACCGGTCCCTGTCATTGTGTCCAATTTC,C>T,P>L,missense,KCNA2
rs780834658,7,+,143332734,TTCTTCCTCTCCCAGTTGATGCCCCGCGAAGCCATCAGTACTTTGTTTGAC,G>A,R>H,missense,CLCN1
rs181011657,11,+,103257719,CCGTTTTAGTTTGGCTGCTTTTCTCCGACTTTTCCAACGAGCTCTACAAAA,C>T,R>*,stop-gained,DYNC2H1
rs794729281,2,-,178577085,TATACTTGAAAAGAGAGAAACCAGCCGACTTTTGTGGACAGTGGTTTCTGA,C>T,R>*,stop-gained,TTN
rs193922162,7,+,94417733,ATGTGTTTGACTCAAGGGTGAACCTGGTGTGGTTGGTGCTGTGGGCACTGC,G>A,G>S,missense,COL1A2
rs1057519918,8,+,127738390,CAGCAGCAGAGCGAGCTGCAGCCCCCGGCGCCCAGCGAGGATATCTGGAAG,C>T,P>L,missense,MYC
rs113994024,1,-,44881722,CTTTCTAGGTCAATAACTTCTATCCGGAGTGAACTGATTCCATATTTAGTG,G>A,R>Q,missense,EIF2B3
rs779077039,17,+,18135756,CTCAGTGGTGAGTGCCCGAGAGATCCAGGCCGTGGCAGAGCTGCTGCAGAT,C>T,Q>*,stop-gained,MYO15A
rs587777146,8,+,67095434,AGAGGCATATGAAGAACTTCTGAACCAAAGACGACTAGAGGAGGACAGATA,C>T,Q>*,stop-gained,CSPP1
rs1057518707,X,+,41345206,TACTTGGTGTTAGATGAAGCTGATCGGATGTTGGATATGGGGTTTGAGCCT,G>A,R>Q,missense,DDX3X
rs121913495,20,+,58909366,TTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAG,G>A,R>H,missense,GNAS
rs863223458,9,+,134820143,TCATCCAGGCCTGATCGGGCTCATCGGTCCTCCGGGTGAACAGGGTGAGAA,G>A,G>S,missense,COL5A1
rs397508532,7,+,117611734,TTCTTGTACCTGTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATT,G>A,W>*,stop-gained,CFTR
rs587779419,2,+,188992923,TCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACAT,G>A,G>R,missense,COL3A1
rs386833713,16,-,28488620,GCCGATCCCCCACAACAGCTCATCACGATTTGACTGCAACTCTGTCTCTAC,C>T,R>*,stop-gained,CLN3
rs137852920_1,1,-,5904716,CCGCTTCCCACCCGCAACGACGCCACGACTGCAGCTGGTCCAGCTGGATGA,C>T,R>*,stop-gained,NPHP4
rs137852254,X,+,139561710,ATTTGCATTGCTGACAAGGAATACACGAACATCTTCCTCAAATTTGGATCT,C>T,T>M,missense,F9
rs1131691554,17,+,72122796,CGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGG,C>T,P>L,missense,SOX9
rs587783392,9,-,120402886,TGAGGCCCTGCTCAAACAGATCAGCCAGGGACAGAGGCTCCTTGCTGAAAT,C>T,Q>*,stop-gained,CDK5RAP2
rs374621913_1,17,-,80213852,CTTCGTCCCCAACACCCCGGCAGCCCGAGCCGACCTGGCCGCTCAGTACAC,C>T,R>*,stop-gained,SGSH
rs782175860,19,-,41975776,CCAGGGTGCAATTGTGGCTGTGACCGGGGATGGTGTGAACGACTCCCCCGC,G>A,G>R,missense,ATP1A3
rs373919408,7,+,4787644,GTGCTGTGCCCACAGTTCCTGGCCTGGAACAGCCCACCCCTCACCTCCGAG,G>A,W>*,stop-gained,AP5Z1
rs766076524,5,-,483270,ACGCTGGTCTTCATCTCCGTGTACCGGGCCATCGGTGAGGCGGGGCCGGGT,G>A,R>Q,missense,SLC9A3
rs120074127_1,11,+,6393680,GAAGAGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGACGGAGA,C>T,R>*,stop-gained,SMPD1
rs1298056442_1,1,+,228166129,CGCCCACTTCCTGAACGTGCAGGGCCGGACGCTCTATGACGTCATCTTGTA,C>T,R>W,missense,IBA57
rs80358205,1,+,147908548,AATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATC,G>A,R>Q,missense,GJA8
rs372504780,16,-,57950463,TGAACCGCCCTGGGAGGATGCCCACCAGGATGTCAGTACCAGCCCACAGGG,C>T,Q>*,stop-gained,CNGB1
rs397517244,10,+,74072792,GCAGGAGCTCACTCACCAGGAGCACCGAGTGATGTTGGTGAACTCGATGAA,C>T,R>*,stop-gained,VCL
rs104894186,10,+,23193805,ACAACTCAAGGAACAAAATATTATCCGAACAGCCAAAGTCTGGACCCCAGA,C>T,R>*,stop-gained,PTF1A
rs886041722,20,-,50893924,TGGGCACACAAATGTAGTGGTTCCCCGATCCAAACCCTTGATGCTAATTGC,C>T,R>*,stop-gained,ADNP
rs778555849,5,+,132638158,TGATAAAAGGCGGAATTATAACTACCGAGTGGTGATGCTGAAGGGAGACAC,C>T,R>*,stop-gained,RAD50
rs876658350,11,+,61438090,CTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGT,G>A,W>*,stop-gained,SDHAF2
rs988395114,14,-,54845787,GGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAACGTAAGT,G>A,G>R,missense,GCH1
rs1060501181,X,-,38297332,TCCACGATGTTCTGAGAGAAACCTCCAAGAGAGTGTCTTATCTGAACAGGA,C>T,Q>*,stop-gained,RPGR
rs376496894,6,+,43655634,TGACAAGGCTGTGGCCATCATCCCCCGAGGCGCCCTCTTCAAGACCCCTTT,C>T,R>*,stop-gained,RSPH9
rs886041251,3,+,189868614,CCTGGGCCGACGCTGCTTTGAGGCCCGGATCTGTGCTTGCCCAGGAAGAGA,C>T,R>W,missense,TP63
rs121908146,1,+,247424765,GCCCAGACATCCAAGACCACCACCGCGGTGTACGTCTTCTTCCTTTCCAGT,C>T,A>V,missense,NLRP3
rs120074138,11,-,9832290,CTCAAGAAGTGGTACTCTGCTCCTCCGATCTGGAGGATTCCATGGGAAGGG,C>T,R>*,stop-gained,SBF2
rs137853119,22,-,37075180,CTTCACCTCCCAGATCTCCCTCACCGGGCCCGGTGTGCGGGTGCACTATGG,G>A,G>R,missense,TMPRSS6
rs761341952,16,-,89816551,GACCCAGGGGGCCGCCGGAGGGCCTGGGCCGAGCTGCTGGGTAGGTGGGCG,G>A,W>*,stop-gained,FANCA
rs397515225,16,+,2080366,CAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGC,G>A,R>Q,missense,TSC2
rs786202083_0,2,+,47408539,AATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATC,G>A,W>*,stop-gained,MSH2
rs397509411,14,+,102033136,AGTTACAATTATGAAATTGTGAATCGGGCTTCCCTGGCTTGCGGCCCTATG,G>A,R>Q,missense,DYNC1H1
rs397516923,6,+,7555761,CAGGCACCAGAACCAGAACACCATCCAGGAGCTGCTGCAGAACTGCTCCGA,C>T,Q>*,stop-gained,DSP
rs111033591,12,+,868697,TGGAATTTTACCTCAGCGTGTTTACCGAAATCGGCAGGTTGCAGTGGACTT,C>T,R>*,stop-gained,WNK1
rs1064793717,19,+,38483078,TGCCGTCTTCGTCCTGCCCACCCACCAGAACGTCATCCAGTTTGAGCTGGG,C>T,Q>*,stop-gained,RYR1
rs754616030,1,-,235702776,AGTGCAGTTTGCTTTCAGGGAGACCCGAGAACAGGTCAAAGAAATCACCTA,C>T,R>*,stop-gained,LYST
rs199470473_0,10,+,75028626,GAGGCAAAACAAAGAGAGGAAGACCGGATTTAAACTGAATTTGTACACCCC,G>A,G>R,missense,KAT6B
rs756762431,19,-,6495654,ACCAGCCGGGGCAGCCAGCAGTACCGGGCCCTGACGGTGCCCGAGCTCACC,G>A,R>Q,missense,TUBB4A
rs398123008,17,+,56834922,GTTCATCACCTTCTGGTGTAGCCTCCAGCGGTCGCGCCGGCAGCTGCACCG,C>T,Q>*,stop-gained,DGKE
rs104893846,4,+,145639422,GGATAAACTTTATACTGGTTTAATCCAAGGGCAAAGGGCCTGTTTAGCAGA,C>T,Q>*,stop-gained,MMAA
rs777966677,3,+,9890781,ACCGACGGCAGCGACTTTCAGCACCGGGAGCGCGTCGCCATGCACTACCAG,G>A,R>Q,missense,JAGN1
rs397515639,18,+,31326608,GGTGGTAGAAGTTAACAGTGAATTCCGAATCCAGGTAATATATAACAAATC,C>T,R>*,stop-gained,DSG1
rs797044962,13,+,114325034,ATGGAAGTCTGGCCCACCAGAACTCCGAAAGACAGCTCCCACGTTGTCTCC,C>T,R>*,stop-gained,CHAMP1
rs1060505020,12,-,114674452,GGACGCGGCCGCCGCGCACCTGGCCCAGGGCCCCCTGCCTGGCCTCGGCTT,C>T,Q>*,stop-gained,TBX3
rs886043743,3,-,24190290,GGACAAACCGAAGCACTGTCCAGACCGAGAACACGACTGGAAGCTAGTAGG,C>T,R>*,stop-gained,THRB
rs587783454,8,+,60854437,CATGAGCACTGCTAGAGATGAAACCCGAGATGGATTCTACATGGAGGACGG,C>T,R>*,stop-gained,CHD7
rs759320891_1,2,+,219420915,GATGATGGAATACCGACACCAGATCCAGTCCTACACCTGCGAGATTGACGC,C>T,Q>*,stop-gained,DES
rs369879957,7,+,66087380,CCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTC,C>T,R>*,stop-gained,ASL
rs151207122,19,+,11107481,AGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAA,C>T,R>W,missense,LDLR
rs111033308,7,+,107695984,GTCCATCATTCTGGGGCTGGATCTCGGTTTACTAGCTGGCCTTATATTTGG,G>A,G>S,missense,SLC26A4
rs121908324_0,1,+,25543763,AGCCCCAGCTTGGCCAAGCAGAGCTGGGGGGGCGGTGGCCGGCACCGCAGT,G>A,W>*,stop-gained,LDLRAP1
rs587782933,12,+,2504526,CTTTTTCGTTCTAAATCTGGTTCTCGGTGTGTTGAGCGGGTAAGCTGACCG,G>A,G>S,missense,CACNA1C
rs746212325_1,9,-,136434769,CCCAGACCGGAACGTGGCACTCTTCGTGGCCACCTGGAACATGCAGGGCCA,G>A,V>M,missense,INPP5E
rs200089714,11,+,68906109,CATCTCTCTGAAAGAGCTCCAGAGCCGAGGCGTGTGTTTGCTGAAGCTGCA,C>T,R>*,stop-gained,IGHMBP2
rs1064794777,13,-,110186481,ATTCCCAGGCAGTCGTGGTGACACCGGCCCCCCTGGGCCTCCAGGATATGG,G>A,G>S,missense,COL4A1
rs876657624_2,11,-,17544301,AGCTGGACCTGGCCCAGCCATGGACCGAAAAGTGGCCCGAGAATTCCGGCA,C>T,R>*,stop-gained,USH1C
rs587777606,11,-,62691300,GTGGGTGTGGGGGGGCATCTGGCCCCGACACCGCTTCTCTTTGCAGGTCGA,C>T,R>*,stop-gained,BSCL2
rs121917725_1,19,-,33411697,CGGACACGCCGGAGCTCCCAACGACCGAACGATCCAGAATGGGGATATGTG,C>T,R>*,stop-gained,PEPD
rs121965009,22,-,42630899,CTCCAGCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTGAAGCC,G>A,V>M,missense,CYB5R3
rs61731956,11,+,47268596,ATGCTAATGAAACTGGTGAGCCTCCGGACCCTGAGCAGCGTCCACTCAGAG,G>A,R>Q,missense,NR1H3
rs786203889,22,-,28734444,CCTGAGGAGCCTACCCCTGCCCCCTGGGCTCGATTATGGGCCCTTCAGGAT,G>A,W>*,stop-gained,CHEK2
rs121965020,4,+,987858,TGACCAGTACGTCCTCAGCTGGGACCAGCAGCTCAACCTCGCCTATGTGGG,C>T,Q>*,stop-gained,IDUA
rs775437084,14,-,77576851,TTCCTACAACTATCTTGGATTTGCACGGAATACTGGATCATGTCAAGAAGC,C>T,R>W,missense,SPTLC2
rs121913502,15,-,90088702,TGGAAAAGTCCCAATGGAACTATCCGGAACATCCTGGGGGGGACTGTCTTC,G>A,R>Q,missense,IDH2
rs769458738,5,-,13753489,TCTGGTCCATTTAACCAAGAGTTTCGTGATCTTCTGTTAAATGACTGGCGG,G>A,R>H,missense,DNAH5
rs786205593,8,-,117799821,AGCTGCATGAATACGTTTGCCAGCTGGTTTGGCTACATGCCGCTGATCCAC,G>A,W>*,stop-gained,EXT1
rs111033556,6,-,116120284,GTGCATGTGAAAGGGACTCATGTTTGGGTAGGCCTGTATAAGAATGGCACC,G>A,W>*,stop-gained,COL10A1
rs866035312,1,-,16989961,AAGCTACACCGTGGAGCCAGACCCCCGATCCAGGCACCTGGCCCTCAGCGG,C>T,R>*,stop-gained,ATP13A2
rs114342808,1,+,197421404,TCAGCCAATGGCTCTTCTACTTTTCCGAAGCAACAGGGATGTGTTTGTGAA,C>T,R>*,stop-gained,CRB1
rs797045332,X,+,78003168,ACCCCCAATGATAGCAGAGTTCATCCGAGAACTTGGATTTGGAGCCACTGT,C>T,R>*,stop-gained,ATP7A
rs121908865,14,+,81087962,CCTTGTAACTTATACAGAGAAATTCGGAATACCAGGAACTTAACTTACATA,G>A,R>Q,missense,TSHR
rs1085307983,13,+,110491286,AACAGAAGGTGACATCGGCTTCCCTGGGATAACAGGCGTGACTGGAGTCCA,G>A,G>R,missense,COL4A2
rs769603091,16,-,23413536,TGTGTCTGATTTCACCAGCACTCTCCAGTCCATACGAAAGAAGTGCAAACT,C>T,Q>*,stop-gained,COG7
rs876661203,7,-,5973466,CACATGGGGGAGATGGACCACCCCTGGAACTGTCCCCATGGAAGGCCAACC,G>A,W>*,stop-gained,PMS2
rs398123221,X,-,101398838,TATCTTGGACTGGACATCTTTTAACCAGGAGAGAATTGTTGATGTTGCTGG,C>T,Q>*,stop-gained,GLA
rs121909115,1,+,150509696,AGCTCCCCCCTCCCCACCCCTATCCCGAAGCCTCCCCATGGATCACCCTGA,C>T,R>*,stop-gained,ECM1
rs2285644,17,-,44251253,GTGCTGTGGGTGGTGAAGTCCACGCCGGCCTCCCTGGCCCTGCCCTTCGTC,C>T,P>L,missense,SLC4A1
rs387906604,3,-,48565458,TTATGCTGCAGACACTGCCGGCTCCCAGCTCCATGCTGTGCCTGTGCTCCG,C>T,Q>*,stop-gained,COL7A1
rs1064795205,12,-,4379476,GCCTCCCCACTGCTCGGCTCCAGCTGGGGTGGCCTGATCCACCTGTACACA,G>A,W>*,stop-gained,FGF23
rs1085307201,2,+,202467545,ATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGT,C>T,Q>*,stop-gained,BMPR2
rs387907152,19,-,55165427,GGAGAATAATCTGGAAGCTGTGGCCCGACACATGCTGATCTTCAGCCTAGC,C>T,R>*,stop-gained,DNAAF3
rs74315427,20,-,51790634,CCTGAAGACACACCTTGGGGTTCACCGAACCAACACATCCATTAAGACGCA,C>T,R>*,stop-gained,SALL4
rs879255678,17,-,17215188,CAGTGGGAGCCCTGTAGCTGCAGACCGAGGTGGGTGCCCCCAGGCAGAGTG,C>T,R>*,stop-gained,FLCN
rs786204815,2,-,144400160,TATTGGTTTAATCTCTGTAAATGGCCGAATGAGAAACAATATCAAGACGGG,C>T,R>*,stop-gained,ZEB2
rs387906912,2,-,43838634,GACCCCCGGAGGGTCCATGGGTCTCCAAGTAAACAGAGGCTCCCAGAGCTC,C>T,Q>*,stop-gained,ABCG5
rs45517179,16,+,2064341,CCCCGAGGATAAAGACCACCAGGTCCGAAAGCTGGCCACCCAGTTGCTGGT,C>T,R>*,stop-gained,TSC2
rs140630532,21,+,44286698,GGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTT,C>T,R>W,missense,AIRE
rs774774648,16,+,89526347,CCCCCAGCGGCTAGCCTTGATGTACCGAATGCAGGTTGCAAATATTGACAA,C>T,R>*,stop-gained,SPG7
rs104894418,13,-,108209531,AACTGGCTGCACCTTGCGTTTTCCACGAATTGAAAAGATAAGAGATGACAA,C>T,R>*,stop-gained,LIG4
rs150879145,11,-,78493136,TTCCGAGCTGAAAATTCTCAGAGCCGGAGGCACCTGGCAGAGTTTTATATG,G>A,R>Q,missense,NARS2
rs80356525_1,19,-,45553741,CCTAGTGCTGGAGTACTGGCGCCACCAGGCGCAGCAGCGCCACAAGGAGGA,C>T,Q>*,stop-gained,OPA3
rs774202259,19,-,17843777,ACCCAAGTCCTGCTGTACAGGATTCGGTAGGAAGTGCCCCCCAGCCCCCAG,G>A,R>H,missense,JAK3
rs61755814,6,-,42704478,CTCAGCACACTACAGTTACGACCACCAGACGGAGGAGCTCAACCTGTGGGT,C>T,Q>*,stop-gained,PRPH2
rs121918158,2,+,127428575,CAATCAGGCCGGCCAGGAGACCCTCGTGACGGGCTGGGGCTACCACAGCAG,G>A,V>M,missense,PROC
rs397514535,3,+,4706193,CAAGAGCCGGGCCATTGCCATTCCCGTGGACCTGGACAGCCAAGTCAACAA,G>A,V>M,missense,ITPR1
rs1057519465,15,-,72346598,TTCCGGGCCCTTCTCTCTGCCCCCTGGTACCTGAACCGTATATCCTATGGC,G>A,W>*,stop-gained,HEXA
rs748555510,16,+,89544731,GGACGGTGCTCTGATGAGGCCAGGCCGACTGGACCGGCACGTCTTCATTGA,C>T,R>*,stop-gained,SPG7
rs63751693,2,+,47445556,TTACTACTTTCTTTTAGGAAAACACCAGAAATTATTGTTGGCAGTTTTTGT,C>T,Q>*,stop-gained,MSH2
rs74315319,1,+,34785300,CAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCAC,C>T,R>*,stop-gained,GJB3
rs193303102,7,-,144400250,CCACTATCCTGACAGTGATAAACGCCGAGAGATTGCCCAGACGGTGGGGGT,C>T,R>*,stop-gained,NOBOX
rs755596256_0,5,-,13814801,CTTGATGGTCCAGTAGATGCCATCTGGATTGAAAATCTGAATTCTGTTTTG,G>A,W>*,stop-gained,DNAH5
rs879255667,17,-,17221555,TGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGC,C>T,Q>*,stop-gained,FLCN
rs753710639,2,-,222631623,ACTAGAAATATTTTTATTGAATGCACGGGAACTGACTTTACTAAGGTAAGT,C>T,T>M,missense,FARSB
rs864622273,10,-,62813412,GACTACTGTGGCCGAAAGTTTGCCCGGAGTGATGAGAGGAAGCGCCACACC,G>A,R>Q,missense,EGR2
rs794729265,2,-,178612355,GACTGAGGGCTCTTTATATGTGTTCCGAGTTGCTGCAGAAAATGCTATAGG,C>T,R>*,stop-gained,TTN
rs61751362_1,X,-,154030948,GAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCC,C>T,R>*,stop-gained,MECP2
rs746219370,12,-,109561052,CATTTCTGCCGGGCCGTGTGCCGCCGGGCCGAGAGACGGTAAGAGGGCTGG,G>A,R>Q,missense,MMAB
rs772294726,5,+,61098995,TAAATATTATTTTTCTTTCTAGCTTGGATTAGAAGAACAAGAAAGACTCCA,G>A,W>*,stop-gained,NDUFAF2
rs869320631,2,-,232771205,TGGGGAATCCTAATGGACATGCGCTGGCGTTGGATGATGTTGGTCTTTTCT,G>A,W>*,stop-gained,KCNJ13
rs145213771,14,-,23417598,CTCCTCGCTGGAGAAGACCAAGCACCGGCTACAGAATGAGATCGAGGACTT,C>T,R>W,missense,MYH7
rs1296165092,14,-,24259192,TGGGAACTGGTCTGGTGATTACTCCCGAGGCACCAACCCATCAGCGTGGGT,C>T,R>*,stop-gained,TGM1
rs374434303_1,19,+,7561509,GCAGGAGGAGGAGAAGTCGATTCTCCGGCAACGACGCTGTCTGCCCCAGGA,C>T,R>W,missense,PNPLA6
rs766420673_1,9,-,36249334,AATCATGGAGAAGAATGGAAATAACCGAAAGCTGCGGGTTTGTGTTGCTAC,C>T,R>*,stop-gained,GNE
rs1057521859,15,-,48513615,TGCTGGTGGTGAGTGTATTAACAACCAGGGTTCGTACACCTGTCAGTGCCG,C>T,Q>*,stop-gained,FBN1
rs104894653,17,-,46773743,GCTGGGCATCCAGGAGTGCCAGCACCAGTTCCGGGGCCGCCGCTGGAACTG,C>T,Q>*,stop-gained,WNT3
rs118204428,9,-,101430878,TTCCAGACCTGTCACCATGGCCCACCGATTTCCAGCCCTCACCCAGGAGCA,C>T,R>*,stop-gained,ALDOB
rs104894193,11,-,44275472,AACAAGGGCAAGAAGCGGCGGAACCGGACCACCTTCACCAGCTACCAGCTG,G>A,R>Q,missense,ALX4
rs207459998,M,+,14846,CAACATCTCCGCATGATGAAACTTCGGCTCACTCCTTGGCGCCTGCCTGAT,G>A,G>S,missense,CYTB
rs528961889_1,1,-,152307805,ATCTGCAGTCAGAGACAGTGGACACCGAGGGTCCAGTGGTAGTCAGGCCAG,C>T,R>*,stop-gained,FLG
rs587782144,17,-,7675139,ACACCCCCGCCCGGCACCCGCGTCCGCGCCATGGCCATCTACAAGCAGTCA,G>A,R>H,missense,TP53
rs139265251,X,+,48685786,GACGAGGACGAGGCCCAGGCCTTCCGGGCCCTCGTGCAGGAGAAGATACAA,G>A,R>Q,missense,WAS
rs1037293795,12,-,102843698,CCAAAATTACACTGTCACGGAGTTCCAGCCCCTCTATTACGTGGCAGAGAG,C>T,Q>*,stop-gained,PAH
rs119103265,1,+,12002033,GACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGT,C>T,R>W,missense,MFN2
rs104893621,2,+,98396476,CAAGGTCACCAAGGACTTGGAGACGCGGGTTATCCGGTGGTTTGACTACCT,C>T,R>W,missense,CNGA3
rs387906964,3,-,45967128,CAGAGAGCTTAGGGCTCTCGAGAGCCAGTGCCAGCAGCAGACCCAGCTGAT,C>T,Q>*,stop-gained,FYCO1
rs541024038,22,+,31843106,TATTTTTCTGTTAGGCCTTGTGTCCCGAAACCGCCCTGAGGAGGAGGACCA,C>T,R>*,stop-gained,DEPDC5
rs118192130,19,+,38570620,CTTCTCTCTCAGAACTACCTGTCCCGGAACTTTTACACCCTGCGGTTCCTT,G>A,R>Q,missense,RYR1
rs371263807_1,11,+,68049783,CCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGT,C>T,R>*,stop-gained,TCIRG1
rs375424292,8,+,133012017,TGCCACCAGCAATTTCTCTGCTGTCCGAGACCTCTGTTTGTCGGGTAAGGG,C>T,R>*,stop-gained,TG
rs369162678_1,1,-,5863955,CACCTACACCAACCCCTACCCCTCCCGGAGGACATTCCACCTGCACAGCGA,C>T,R>W,missense,NPHP4
rs781223647_1,1,-,216422150,CCAAGCAGTATGTGGACTCCCAGACCGAAGCACTTTTTGTCACAGCTCTGC,C>T,R>*,stop-gained,USH2A
rs267606955_2,10,+,94259072,TGATGTCTATGCAGTGCCCTGCAACCGATCTGGCTCCGAGTCAGCCCCACT,C>T,R>*,stop-gained,PLCE1
rs202047589,10,+,97599780,GCAGTGGTCACGCTTTCCCAGCACCCGAATATTGTGGGCATGAAGGACAGC,C>T,P>L,missense,HOGA1
rs121918115,16,+,28902228,CTGGGGCTGCCTGAGGCCCTGATCCCGGTGCAGCTGCTATGGGTGAACTTG,C>T,P>L,missense,ATP2A1
rs80344795,2,-,151656263,CAGTGTCACGGCTGCAAAGGATGCCCAAGCCAACATCACCAACACTAACTA,C>T,Q>*,stop-gained,NEB
rs587779075,2,+,47429830,ACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACA,C>T,R>*,stop-gained,MSH2
rs587777092,9,-,128634842,GACCCTAGGCTGTTCATTCTGGGCACGGAAGGCGGCTTCCCGCTCAAGTGT,C>T,T>M,missense,WDR34
rs374163823,16,+,56879593,GCCCCTGATCACGGCTGGCATCTTCGGGGCCACCCTCTCCTCTGCCCTGGC,G>A,G>R,missense,SLC12A3
rs794728231,15,-,48465622,ATGTATCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTA,C>T,Q>*,stop-gained,FBN1
rs1085307859,2,+,148468631,GCCCAGCCCAGCGTCATCAGGTTCCCAGATATATGGAGATGGTTCAATCTC,C>T,Q>*,stop-gained,MBD5
rs780333963,3,+,193637279,TTATAATACGCAAGATCATCTGCCACGGGTATGTGAAAAATTGATAGTGAA,C>T,R>W,missense,OPA1
rs1057520391,6,-,3225556,ATGCCCTCACCCAAGGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACC,C>T,T>M,missense,TUBB2B
rs386833993,6,-,73635482,TTTTAAGGTACTATTGGAATATTTTGGTTTCTTTTGTGGATCTGGTTAGTT,G>A,W>*,stop-gained,SLC17A5
rs1064795534,2,-,240788110,CTTCGCCTATGGGCAGACGGGTGCCGGCAAGTCCTACACCATGATGGGCAA,G>A,G>S,missense,KIF1A
rs587777419,15,-,65029541,CGCCAGGCGTGGGAGGCCGAGTCCCCAGTGGCGAGCACTGGCCCGACTCGG,C>T,Q>*,stop-gained,MTFMT
rs876657776,5,-,141524167,AGCCCTGCAGTCAGGGGCAGCATTCCGACGGAAGAGAGGGCCCCGTCAAGG,C>T,R>*,stop-gained,DIAPH1
rs121909398,2,-,181558617,GAAGAATGCTGGGATGGAAACAGACCGAATCCTGACTCCTGTCAGAGCACA,C>T,R>*,stop-gained,CERKL
rs111033800,9,+,34649502,TCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAAT,C>T,R>W,missense,GALT
rs779690256,16,-,56506137,AGTTGGAGTTTATGACAAAACATCCCGATACTGGAGAATTAAAGTTAGTAT,C>T,R>*,stop-gained,BBS2
rs575064188,2,+,218812965,TGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGG,C>T,Q>*,stop-gained,CYP27A1
rs797045479,2,-,237361150,GGGTATTCCTGGAGAAGACGGCTACCGAGGCTATCCTGGTGATGAGGGTGG,C>T,R>*,stop-gained,COL6A3
rs121918271,11,+,124875145,CCAGTCCAGCTGGTGCAAGGTTTCCGGGTGTCTTGGAGGGTAGCAGGCCCT,G>A,R>Q,missense,ROBO3
rs761848111,16,-,89282980,GGAGCCCAGAGACAGGAGAAAGGACCGAGGGGCTGCCGACGCGGGGAGAGA,C>T,R>*,stop-gained,ANKRD11
rs1060500308,17,+,31235665,GTTTGATTCTCGGCATTTACTCTACCAACTGCTCTGGAACATGTTTTCTAA,C>T,Q>*,stop-gained,NF1
rs750451693,3,-,149210191,AAAAGATATTGCCTCAGGACTCATCGGACCTTTAATAATCTGTAAAAAAGG,G>A,G>R,missense,CP
rs767354861,X,+,71375242,TTGATGCCTCCTCCACCTCCACCCCCGGGACCAATGAAGAAGGATAAGGAC,C>T,P>L,missense,TAF1
rs766840243,2,-,178563892,CATCATTGAAAAGAGGGAGACAAGCCGACTCTCTTGGACCCAGGTTTCAAC,C>T,R>*,stop-gained,TTN
rs794727143,12,-,49046762,ACCAAGGTGATGCTGCTCAAGGGCTGGCGTTGTGTGGAGTGTATTGTGTGT,G>A,W>*,stop-gained,KMT2D
rs79555199,10,+,100750707,TTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCGG,G>A,G>S,missense,PAX2
rs139507589,19,+,11106628,GATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGC,G>A,R>Q,missense,LDLR
rs794728194,15,-,48495162,AAAGTCCCAGTGCTGCTCCTCCCTCGGTGCTGCGTGGGGAAGCCCGTGCAC,G>A,G>S,missense,FBN1
rs772437766,8,+,93755799,TTAGGAACTTCATGTGTATGTCTACCAGGATTTCAGATGATCTCTAATAAT,C>T,P>L,missense,TMEM67
rs377215510_1,1,+,25812720,CTTGCCGTTCACTGAGGCCTTCGACCGAGCCAAGGCTGAGAACAAGCTGGT,C>T,R>*,stop-gained,SELENON
rs199840952,2,+,97732893,CCCTTCCCCTGCCAGGCTGAGGCCGCGGAAGGAGCAGGGCACATACGCCCT,C>T,R>W,missense,ZAP70
rs781139634,2,-,25235768,AAACTCCATAAAGCAGGGCAAAGACCAGCATTTTCCTGTCTTCATGAATGA,C>T,Q>*,stop-gained,DNMT3A
rs773243225,4,-,3532232,GGAGTTCCGCATGGAGAAGTTGAACCAGCTGTGGGAGAAGGCCCAGCGAGT,C>T,Q>*,stop-gained,LRPAP1
rs774528745,2,-,222221368,CCATAGGTCTGGTTTAGCAACCGCCGTGCAAGATGGAGGAAGCAAGCTGGG,G>A,R>H,missense,PAX3
rs377549148,1,+,22647250,AGGAATCCCAGCCATTCCCGGGATCCGAGGACCCAAAGGGCAGAAGGGAGA,C>T,R>*,stop-gained,C1QC
rs200546266_1,19,+,38477821,CATGAGCTTCGACCTCAGCAAGGTCCGGGTCGTGACGGTGACCATGGGGGA,C>T,R>W,missense,RYR1
rs766076920,1,+,21568122,CTTTTAGGTGATCATGGGGGGTGGCCGGAAATACATGTACCCCAAGAATAA,C>T,R>W,missense,ALPL
rs121909721,2,-,27313031,GGTCTGCAGGAACACCAGAGAGGCCGGACTCTGACCATGGTGTCCCTGGGC,G>A,R>Q,missense,MPV17
rs397514635,11,+,103199373,GCAGGACGCAGTGGTGTAGGTCGTCGGACCATCACTTCTTTAGTCAGTCAC,G>A,R>Q,missense,DYNC2H1
rs1306586204,18,-,46485071,GCTCATCCTGGAGGGCAGGAAGAACCGATCCAAAGAGTTTCTCATGGAAAA,C>T,R>*,stop-gained,LOXHD1
rs104893705_2,3,+,122283896,CACACCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTT,C>T,R>*,stop-gained,CASR
rs1057521138,X,+,154558634,CTTGGAGGCTGCCACTAAGGAATGCCAGGCTCTGGAGGGTCGGTGAGTCGG,C>T,Q>*,stop-gained,IKBKG
rs104894371,12,+,131932301,GAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGTGGGTGGTGGCCT,C>T,R>W,missense,PUS1
rs121912864,12,-,47977373,AGCTCCTGGAGCCCCTGGGCCCCCTGGCTCCCCTGGCCCCGCTGGTCCAAC,G>A,G>S,missense,COL2A1
rs104893965,6,+,121447974,AGCAGTCGTGCCAGCAGCAGACCTCGGCCTGATGACCTGGAGATCTAGATA,G>A,R>Q,missense,GJA1
rs121908107,20,+,31820333,GAGGGTGACAGGGGCGGGGGGCCCGCGGAGGGCAGTGCTGGGCCCCCGGCA,C>T,A>V,missense,MYLK2
rs137852727,9,+,137834397,CGCGCGGTTCTACGGGAACGTCAGCCGGTTCATCAACCACCACTGCGAGCC,C>T,R>W,missense,EHMT1
rs756830714,17,+,15999855,CAGAGGACGCGGCGGGAGCATGTTCCGGCTCCTGAGCTGGAGCCTGGGCCG,C>T,R>W,missense,TTC19
rs387906714,X,-,110694289,CTCTCACTATGATCCTCCACCAAGCCGACAGGCTGGAGGTCTGTCCCGCTT,C>T,R>*,stop-gained,CHRDL1
rs1293161341,5,-,98856390,ACACCGGAGCATACCTGGAGTAGTCGGAAAACATAACAAAAACTGATACTT,G>A,R>Q,missense,CHD1
rs151344503,6,+,32040766,GTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGC,G>A,W>*,stop-gained,CYP21A2
rs150115958,11,+,67457677,GGTGCGAGAGCTGCGCATCGCCTTCCGAGAGGTGCGGAGTGTGGTGAGGTG,C>T,R>*,stop-gained,CABP4
rs1060503011,5,-,1279410,CAGCGTGCTCAACTACGAGCGGGCGCGGCGCCCCGGCCTCCTGGGCGCCTC,C>T,R>W,missense,TERT
rs1064794730,2,+,165388709,AGTGATCCGTCTTGCCAGGATTGGCCGAATCCTACGTCTGATCAAAGGAGC,C>T,R>*,stop-gained,SCN2A
rs121434357,19,-,8601029,GCCAGGCCTGAAGCGATCGGTCAGCCGAGAGCGCTACGTGGAGACCCTGGT,C>T,R>*,stop-gained,ADAMTS10
rs72656387,7,+,94409367,TAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCC,G>A,G>S,missense,COL1A2
rs397516061,11,-,47349815,GGTGGACCTGAGCAGCAAGGTGGGCCAGCACCTGCAGCTGCACGACAGCTA,C>T,Q>*,stop-gained,MYBPC3
rs146539065,4,-,25145092,GAATAGATGCTTTTGTTCAGAGCTTGGACAAAAATTTTATGGTTCCAGTAG,G>A,L>L,synonymous-codon,SEPSECS
rs80338758_1,X,+,71127367,TGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCG,C>T,R>W,missense,MED12
rs570942190,19,+,11113337,CGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCC,C>T,R>W,missense,LDLR
rs587779536,2,+,189007912,CCCTGCTGGTCAGCAGGGTGCAATCGGCAGTCCAGGACCTGCAGGCCCCAG,G>A,G>S,missense,COL3A1
rs267607144,12,-,109800665,GGAGCTGATGTCCACGCCCAGGCCCGTGGGCGCTTCTTCCAGCCCAAGGAT,G>A,R>H,missense,TRPV4
rs118203989_1,2,+,178456101,GGTCATGGAGAGCATCCGAACCACACGACAGTGCTCACTGTCTGTGCATGC,C>T,R>*,stop-gained,PJVK
rs1085307888,1,+,156134508,GACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGG,C>T,Q>*,stop-gained,LMNA
rs113994096,15,-,89325639,CGGCTAGACGACCCTGCATGGACCCCGGGCCCCAGCCTCCTCAGCCTGCAG,C>T,P>L,missense,POLG
rs312262851,X,+,13746948,TACCCTTGAAAGAATTCACAAGCACCAAGAGGTGGTATTTACAAATATTTT,C>T,Q>*,stop-gained,OFD1
rs749633059_1,22,+,20859195,CCGGCCGGCCCCTTGGAGGGACGCCCGAGACCTCCCCGACGGGCCCGACGC,C>T,R>*,stop-gained,SNAP29
rs61753965,X,-,154030612,GGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAA,C>T,Q>*,stop-gained,MECP2
rs75134564,5,-,41862656,GTAAAAGACATCCCTGATGGTGCCACGGTTTTGGTTGGTGGTGAGTACTAA,C>T,T>M,missense,OXCT1
rs876658740,11,+,108310195,GGAACAATTTTTAATGATGCTTTCTGGCTGGATTTAAATTATCTAGAAGTT,G>A,W>*,stop-gained,ATM
rs104886210,X,+,108625776,ACCTCCTGGACTTAAAGGAACCATCGGTGATATGGGTTTTCCAGGTGAGTG,G>A,G>S,missense,COL4A5
rs886039506,9,-,127829770,ATCCAAGCAAAATGGCACCTGGCCCCGAGAGGTGCTTCTGGTCCTCAGTGT,C>T,R>*,stop-gained,ENG
rs772174079_1,22,-,50222507,GGCACTGTGGAGAATCCAGAGGCACCGACTGGAGAGTGCACGGCTTCGTTT,C>T,R>*,stop-gained,TUBGCP6
rs193922109,13,-,51937342,CATTCACCTTTCCAAGAGGACTGTCCGAAGGATACGCATCAACCTGGTCCT,C>T,R>*,stop-gained,ATP7B
rs886039782,5,+,179823038,GTCCTACGTGAAGGATGACATCTTCCGAATCTACATTAAAGGTAAGGGGCT,C>T,R>*,stop-gained,SQSTM1
rs1057518245,X,-,41531144,GAATTATTACTTTGTATCTCATGACCAAATGATGCAAGACATCTCTAATAA,C>T,Q>*,stop-gained,CASK
rs201754030,12,+,57796461,AGAGGCAGAGACTAAGATGCTGTCCCAGCCGTATTTGCTGGATCCCTCCAT,C>T,Q>*,stop-gained,TSFM
rs63750446,16,-,16155019,CAACCCCGGGCAGGTGGGCATCGTTGGCAGGACCGGGGCAGGGAAGTCCTC,G>A,G>S,missense,ABCC6
rs557416644,11,+,68915015,TGCAGATATCAGGAAGGACATCGACCAGGTCTTTGTAGGTGTCATGGCCAG,C>T,Q>*,stop-gained,IGHMBP2
rs1057518003,2,-,178531962,ACCTACTCCAGAGAGAACTCGCCCACGATCCCCCAGCCCTGTGTCTAGTGA,C>T,R>*,stop-gained,TTN
rs869320638,12,-,12179949,TATTGGACTGACTGGGGAGAAATTCCGAAAATTGAGCGAGCAGCTCTGGAT,C>T,P>L,missense,LRP6
rs397514526,17,-,8086028,GGATGGCTACGAGACCCTGGCACTCCGGGAGGCCACAGGTAAGCCCTCATC,C>T,R>W,missense,ALOX12B
rs1057517941,15,+,38299386,CATCTATTTTAGTAATAGTTATGCACGAGTGCGAGCTGTGGTGATGACCCG,C>T,R>*,stop-gained,SPRED1
rs387906877,17,-,44876019,CACTGTGTGCATCAACAAGATTGACCGGCTGATCCTGGAGCTGAAGCTGCC,C>T,R>W,missense,EFTUD2
rs121918039,4,+,88043277,AAAGACTTGAATGGTAGTAGCCACTGGGGAATCATTGCAACTTATAGTGGA,G>A,W>*,stop-gained,PKD2
rs72551350,2,+,233767921,CACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGG,C>T,Q>*,stop-gained,UGT1A1
rs71530923,4,+,6277579,GGAGCAGGAGAGGAGCGAAAGGCCCCGAGCACCCGGACCCCAGGCTGGCCC,C>T,R>*,stop-gained,WFS1
rs778490238,13,-,51974157,TGGCTCCCCACCGAGAAACCAGGTCCAGGGCACATGCAGTACCACTCTGAT,C>T,Q>*,stop-gained,ATP7B
rs368529673,3,-,48568100,GGAGATGTTGGCTTCATGGGTCCCCGGGGCCTCAAGGTAGGAAAGAAACAA,G>A,R>Q,missense,COL7A1
rs151079750,11,+,68936288,CGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATC,G>A,R>H,missense,IGHMBP2
rs267607239,12,-,49022332,CTAGAATCGAGGCATCTACATGTTCCGAATAAACAATGAACATGTGATTGA,C>T,R>*,stop-gained,KMT2D
rs886042046,3,+,11034651,TCTGTCTTCCATGGTCCTCATCCCCGGGTACATGGCCTACATGTTCCTCAC,G>A,G>R,missense,SLC6A1
rs370950728,17,+,80105857,CGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGA,G>A,G>R,missense,GAA
rs267606638,15,-,100281258,GCAGTACCACGGGGCCGAGGCCGCCCAGAGGTTCATCCTGACCGTCATGAA,C>T,Q>*,stop-gained,ADAMTS17
rs119490108,9,+,37426545,CAGATGTCTGATTCGTAGTGGGATCCGAGTTGGCTACACCCCAGATGTCCT,C>T,R>*,stop-gained,GRHPR
rs281864913,5,-,151828950,GTCTCGGCAACATAAGGAGCTGCTCCGATTCAGGAGGAAGCGGAGACATCA,C>T,R>*,stop-gained,GLRA1
rs377443637,1,-,11794823,GGCTCTCAGCGCCCACCCCAAGCGCCGAGAGGAAGATGTACGTCCCATCTT,C>T,R>*,stop-gained,MTHFR
rs132630315,X,+,70027956,GGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCT,C>T,P>L,missense,EDA
rs121909083,9,-,91724990,CGGCCCTGCCCCGGGGGAGCAGACCCAGGCTGTGGCCATCAAAACGCTGAA,C>T,Q>*,stop-gained,ROR2
rs12568913_2,1,-,179557179,GGAGATAGATGCCATTTGCTACTACCGAATGGAAAATGCCTCTCTTCTCCT,C>T,R>*,stop-gained,NPHS2
rs45539432,1,+,20649109,CGGGCTTGTCAATCCCTTCTACGGCCAGGGCAAGGCCCACCTTGAAAGCCG,C>T,Q>*,stop-gained,PINK1
rs876657671,2,-,178543876,AAAATACACAATTGAAGCTGAAAACCAATCTGGCAAGAAATCAGCAACAGT,C>T,Q>*,stop-gained,TTN
rs538996447_0,15,+,89776586,GACGACGCCCAGACGAGCGCGCACCGGACCAGCGGGCGGACAGCGGCAGAG,G>A,G>R,missense,MESP2
rs886039769,9,-,124500686,GCGCGCTGACCGTATGAGGGGTGGCCGGAACAAGTTTGGGCCGATGTACAA,C>T,R>W,missense,NR5A1
rs778961637_1,17,+,42687957,CAACGTGTCCATCGCGCAGAGCGGCCGAAAGAAGCTTCAGTTCGCTGCTGG,C>T,R>*,stop-gained,CNTNAP1
rs202193096,16,-,30089130,TACTTGTTTCTTCTGGATGTGATTCCGGTGGATGGGGCTCGCTACCGCTGG,C>T,P>L,missense,TBX6
rs104894164,10,+,8073787,GAAGGAAGGCATCCAGACCAGAAACCGAAAAATGTCTAGCAAATCCAAAAA,C>T,R>*,stop-gained,GATA3
rs387906629,3,-,128481270,GAAGGAAGGGATCCAGACTCGGAACCGGAAGATGTCCAACAAGTCCAAGAA,C>T,R>W,missense,GATA2
rs748294403_1,3,+,41236614,GACATATGCAGCTGCTGTTTTGTTCCGAATGTCTGAGGACAAGCCACAAGA,C>T,R>*,stop-gained,CTNNB1
rs121434289,8,-,144414291,GAGCCTGGCAGTGGGTGCAGTCACTGGGGACGCTGTCCTGCATCTGACGCC,G>A,G>R,missense,SLC39A4
rs759761559,7,+,143331264,CACTGCTCTGTTCAGAACCAATTTCCGAATGGATTTCCCCTTTGACCTGAA,C>T,R>*,stop-gained,CLCN1
rs267606681,2,-,127068982,AAGCTGGTGGACTACGACAGTGCCCGGCACCACTACGAGTCCCTTCAAACT,G>A,R>Q,missense,BIN1
rs1057518699,X,-,65524113,GCCAGCCTTGGGGATCAGCGGGATCCGGCCTACCTACATCCTCAGATGGAC,C>T,R>W,missense,LAS1L
rs746645358,8,+,1780415,GCCTCATTTGACACTGTTCCTTGTCGGACTGGCTCTGCTTACGCTAATCAT,G>A,G>R,missense,CLN8
rs121918719,14,-,24261775,GAGTACGACGAGCTGATAGTGCGCCGCGGGCAGCCTTTCCATATGCTCCTC,G>A,R>H,missense,TGM1
rs186031457,3,+,136256588,AGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGT,C>T,R>*,stop-gained,PCCB
rs972341316,19,+,10989339,CAGGCTGCAGGCTCGCATCGCACACCGAATTCAGGAACTTGAAAACCTTCC,C>T,R>*,stop-gained,SMARCA4
rs370270828,14,-,105241292,GAAGCGGGACTGGATGCACACAGGCCGGCGCCCCTCGGGCCTCTGCGGAGC,C>T,R>W,missense,BRF1
rs372761949,16,+,7595618,GGCGAGGGAGAAATTACACGGCACCGTGGTAGAGGGCCGTAAAATCGAGGT,G>A,V>M,missense,RBFOX1
rs879254419,19,+,11100312,GGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGA,C>T,Q>*,stop-gained,LDLR
rs376894444,11,+,66515586,CTGAAGGAGATGCTGGAGAGCATCCGGTGAGAGGCTGCCTTCCCCTTCATA,G>A,R>Q,missense,BBS1
rs72658152,7,+,94418508,TGCTTTATACTTTCAGGGTGAACCTGGTCTCAGAGGTGAAATTGGTAACCC,G>A,G>S,missense,COL1A2
rs774044026,9,-,14859360,GGTGCCTGAATTCAATGGCTTGTCCCAAGCGATTGATAAAAATCTGCTCAG,C>T,Q>*,stop-gained,FREM1
rs387906913,22,+,17104729,TTCCTGCCCTCTCTGCCCGCAGATCCAGCCCTTCTTCAGCAGCTGCCTCAA,C>T,Q>*,stop-gained,IL17RA
rs121434641,11,+,47235326,GACCACGGACCAGAAGAGCGAGATCCGAGTTTACTCTGCTTCCCAGTGGGA,C>T,R>*,stop-gained,DDB2
rs121909744,3,-,170998317,AGCTTCTTTGAAATTGGGCCAGGCCCGATCCCCTGGTTCATGGTGGCTGAG,C>T,P>L,missense,SLC2A2
rs104894519,16,-,11553576,CGTGAGTCAGCTGTCCTATAACGCCGGTGCTCTGACCTGGCTGTCCTGCGG,G>A,G>S,missense,LITAF
rs761817519,16,-,71568212,GGTGATGATGCTGGAGGCGTGCAGCCGGATCCAGGAGTTCTGTGAGCAGCA,C>T,R>W,missense,TAT
rs1060500471,2,-,178534554,CAACCCATTCCTGGCTGAAACTAACCAACAGATCATTGAGAATATCATGAA,C>T,Q>*,stop-gained,TTN
rs727504304,21,-,42376543,CCTGACGGGTGGCGTGGACAGCTGCCAGGTACGGGGCCGCAGCGGTGGGCG,C>T,Q>*,stop-gained,TMPRSS3
rs104886179,X,+,108614919,GTATTTATTTCTTAAAGGTGATGTTGGACCAAATGGACAACCTGGACCAAT,G>A,G>R,missense,COL4A5
rs397515324,1,-,149923922,AGGCTCTGGGGGCCAGCCACCGCCCCGACCACCACCTGGAATGCCTCATCC,C>T,R>*,stop-gained,SF3B4
rs80358578,13,+,32337674,TTCAAACCATAATTTAACACCTAGCCAAAAGGCAGAAATTACAGAACTTTC,C>T,Q>*,stop-gained,BRCA2
rs587779446,2,+,188988108,CCCCCCAGGCCCTCCCGGTCCCCCTGGTACATCTGGTCATCCTGGTTCCCC,G>A,G>S,missense,COL3A1
rs121908425_1,4,+,5748226,GTTTAAGTGTTCCAGCTCCAAAGCCCGACAGCTGATGATGACTCTGACGGA,C>T,R>*,stop-gained,EVC
rs763073072,14,-,23415102,GAAGCAGCTGCAGAAGCTGGAAGCGCGGGTGCGGGAGCTGGAGAATGAGCT,C>T,R>W,missense,MYH7
rs1060503102,2,+,165388682,GTATTTTGTGTCCCCTACCCTGTTCCGAGTGATCCGTCTTGCCAGGATTGG,C>T,R>*,stop-gained,SCN2A
rs121434491,2,-,55871091,TGAGTGTGAGACCACAAATGAATGCCGGGAGGATGAAATGTGTTGGAATTA,C>T,R>W,missense,EFEMP1
rs796052890,15,-,89320998,TTGTCTTCCAGGCTGCACAGCCTTTGGGTGGATGACACTGCAGGGCAGGAA,G>A,G>R,missense,POLG
rs587779447,2,+,189004275,GTATTAGGGAGCTCCAGGCCCACTTGGGATTGCTGGGATCACTGGAGCACG,G>A,G>R,missense,COL3A1
rs775024756,15,-,82689223,TGACCCCACCACCCAGATGATTGCCCGAGGAAAGAATGCTTCAGACCTGTT,C>T,R>*,stop-gained,AP3B2
rs1064794297,21,-,44886837,CACCGTGGCAGGCATCGTGCTGATCGGCATTCTCCTGCTGGTCATCTGGAA,G>A,G>S,missense,ITGB2
rs201255508,16,+,56865482,CCAGCCTGGTGAGCCCCGGAAGGTCCGGCCCACACTGGCTGACCTGCACTC,C>T,R>W,missense,SLC12A3
rs386833980,13,+,76996086,TTTGAGGGAATTGATGATGTTCACTGGAAGGAAAATGGGACATTAGTTCAA,G>A,W>*,stop-gained,CLN5
rs878855095,11,+,66514662,CCAAATCCTCTGGAACAAGACCTTTGGAACCAGGCCAAAGAGGTAAATAAA,G>A,W>*,stop-gained,BBS1
rs121912970,6,+,121446944,GTGGCTGTCAGTACTTTTCATTTTCCGAATCCTGCTGCTGGGGACAGCGGT,C>T,R>*,stop-gained,GJA1
rs190140598_1,1,+,237445488,AGAATCACGCACAGCCCGAGTTATCCGGAGCACAGTCTTCCTTTTCAATAG,C>T,R>W,missense,RYR2
rs1060499602,18,+,33738875,TCTAACCAATTCTCATGAAGAACCCCAAATAGCACCTCCTGAAGATAACTT,C>T,Q>*,stop-gained,ASXL3
rs1057516759,1,-,209617519,ATGACCAAGCAGCTGGGTGACTTCTGGACACGGATGGAGGAGCTCCGCCAC,G>A,W>*,stop-gained,LAMB3
rs409652,1,-,155238174,GAAGGGGTCACTCAAGGGACAGCCCGGAGACATCTACCACCAGACCTGGGC,G>A,G>R,missense,GBA
rs267607058,10,+,71362526,GTGCCCAGGGAGCTGGCTGAGGCCACGGGAGTGGTGATGTCCTTTTATGTG,C>T,T>M,missense,SLC29A3
rs755310507_1,1,+,160136307,GAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGT,C>T,R>*,stop-gained,ATP1A2
rs863223414,12,+,51913237,GAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAG,G>A,R>Q,missense,ACVRL1
rs1424300803,8,+,38238104,TCTGTTTAAGCTTATGGTGCATTACCAGCCAGTTGCAGGGTCTGATGATTG,C>T,Q>*,stop-gained,DDHD2
rs118031911,8,+,54629679,TATCCAACCCATGAATGAGGAAGACCGAGGATTTGCATATCGCAAAGAATC,C>T,R>*,stop-gained,RP1
rs387907349,14,-,68880030,TGAGGTAGAGAACCAGATCCTGACCCGGGATGCCAAGGGCATCAGCCAGGA,C>T,R>W,missense,ACTN1
rs200075782,22,-,38169318,TGTGGCCGACTACACCTCGAGTGACCGAGTTCGGGAGGAAGGGCAGCTGAT,C>T,R>*,stop-gained,PLA2G6
rs587779625,2,+,188990114,TACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCC,G>A,G>R,missense,COL3A1
rs121918059,1,+,45014835,CTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCT,C>T,R>W,missense,UROD
rs730881415,2,-,214781267,GGCTAAAAAGGCTTCTGCAAGATCTGGAAAAAAGCAAAAAAAGAAAACTTT,G>A,G>R,missense,BARD1
rs782205045,X,-,53194735,GCTCCTGTCCTGGGTATGGCAGATCGTGGCCTTCAAGGAGGGGGAACAGAA,G>A,V>M,missense,KDM5C
rs776813259,3,-,133935781,CGCCTACTATGACAACGATGCTCTCCGAGACAGGTGAGGGCCCATCATGTA,C>T,R>*,stop-gained,SLCO2A1
rs587777732,20,+,44406195,CTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACAT,C>T,R>W,missense,HNF4A
rs587784157,5,+,177280742,TCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCC,C>T,Q>*,stop-gained,NSD1
rs1057519293,1,-,16996262,CATCTACAGCATCTTCATCCTCTACCGAAACCGGGTAAGCCTTGGGGGTGG,C>T,R>*,stop-gained,ATP13A2
rs128620188,X,-,101375242,GGAGAGCATCTTTCTGAAGCGATCCCAACAGAAAAAGAAAACATCACCTCT,C>T,Q>*,stop-gained,BTK
rs72549334,1,+,171117317,AAATGCCATACTGACCCAGTGGGACCGGTCGTTGAAACCCATGCAGACACG,C>T,R>W,missense,FMO3
rs121918580_1,4,+,660590,GATGTACTACGAGCTGGGCGTGGTCCGAAAGTTCCAGATCCCCCAGGAGGT,C>T,R>*,stop-gained,PDE6B
rs113812345,15,-,48513591,CCAGGGTTCGTACACCTGTCAGTGCCGAGCTGGATATCAGAGCACACTCAC,C>T,R>*,stop-gained,FBN1
rs104893619,2,+,98396755,CATCATCAACGAGGGCAAGCTGGCCGTGGTGGCTGATGATGGGGTCACCCA,G>A,V>M,missense,CNGA3
rs1057519564,11,-,9141991,GTCACTGCAATCAACAATACTCCCCGGAACATCGGCAAGGATGGCAAGTTT,G>A,R>Q,missense,DENND5A
rs374156844,6,-,33177700,CACCCATCTTGTGTTTCAGGGCGTCCGAGGCATGGATGGTCCCCAGGGCCC,C>T,R>*,stop-gained,COL11A2
rs200818962,6,+,31962494,GAGCAACCAGAAGTTCCGGGACTTCCGAAACACATTCGGGGATGTGGGGCT,C>T,R>*,stop-gained,SKIV2L
rs774133746,18,+,23928148,ATTTAACATTTCTACGCCTGCTTTCCGAGGCTGCATGAAAAATTTGAAGAA,C>T,R>*,stop-gained,LAMA3
rs121918204,16,-,53652637,GAATACTATCACCCTTGAGGTCCACCAGGCTTATAGCACAGAATATGAAAC,C>T,Q>*,stop-gained,RPGRIP1L
rs770225915,1,-,23820533,GGTGAAAATTGTGGAAGTTGGTCCCCGAGATGGACTACAAAATGAAAAGGT,C>T,R>*,stop-gained,HMGCL
rs121908641_0,9,+,130499545,TGATTATGAGCCAACTGATGCCACCGGGTTCATCAACATCAATTCCCTCAG,G>A,G>R,missense,ASS1
rs63751273,17,+,46010389,TCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTC,C>T,P>L,missense,MAPT
rs751772225,4,+,5783672,GTGTGACTACTTGAGGCAGGAAGTCCAGGAGAACGCTGCCTGGCAGCTGGG,C>T,Q>*,stop-gained,EVC
rs786204123,X,+,71224132,ACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATG,G>A,R>Q,missense,GJB1
rs751995154,17,+,7224011,GTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATT,G>A,R>Q,missense,ACADVL
rs374661051_1,16,+,21965440,TGAAAATTTGCATGCAGCAGCTTACCGGAATGCCTTGGCTAATCCCTTGTA,C>T,R>W,missense,UQCRC2
rs760574657,11,+,121168903,CACCCGAGATAGCAATGATAAGCTCCGATATTTCATCATTGAAGGAGGGTG,C>T,R>*,stop-gained,TECTA
rs147179561,11,+,47276747,CTCATGACAGGTGGTGCTACAGTCCCGAGACTACAATGCACTCTCCATGTC,C>T,R>*,stop-gained,MADD
rs67120076,X,+,38408752,TTCTTCCTCCTTTAGGGTTATGAGCCGGATGCTAGTGTAACCAAGTTGGCA,C>T,P>L,missense,OTC
rs121908889,5,+,132384155,TCTCCTTTTCTTCCCAGGTTTGGCCGGAAGAATGTGCTGTTCGTGACCATG,G>A,R>Q,missense,SLC22A5
rs387907146,16,-,4798631,AGTGATGCTGCAGCTGACCAGAGCCCGAAACCGGCTCACCACCCCCGCCAC,C>T,R>*,stop-gained,ROGDI
rs200177031,13,+,39677550,GACTTCTGATGAAATGAGTCTTCTCCGAGGTACAAGAGAAGGACCCATTAC,C>T,R>*,stop-gained,COG6
rs1064795878,12,-,6592811,TCTCCATCTGCTTCACCAGTTCTTCCGGGTATTGAATGGTTACTCACTCCA,C>T,R>W,missense,CHD4
rs72551316,2,+,218812650,CGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCT,C>T,Q>*,stop-gained,CYP27A1
rs1114167482,11,-,64806259,AATGTGCGGGAAGCCCTGCAGGCCTGGGCGGACACGGCCACTGTCATCCAG,G>A,W>*,stop-gained,MEN1
rs797045467,8,+,60845036,TCTGATCACACCCACAGCGGATGGCCAGACTCGAGCCTTGGTCAACCATTC,C>T,Q>*,stop-gained,CHD7
rs119477053,9,+,77213240,TAATAAATTTTATTTTCAGTTAATCCGATTGGATAACCTGTTTGCCTATTG,C>T,R>*,stop-gained,VPS13A
rs267606864,10,-,98490103,GCTCCAGCGGAAGCCACGGCCTGGCCGAGTGATCCGGGACAAACTAAGGAT,C>T,R>*,stop-gained,HPSE2
rs199474742,17,+,31235728,GGCAGACTCCATGCAGACTCTCTTCCGAGGCAACAGCTTGGCCAGTAAAAT,C>T,R>*,stop-gained,NF1
rs397514701,2,+,69044779,AATGTCCTTTATTGTTTTCTCCACCCGAGGAACAACCTTAATGAAACTGAC,C>T,R>*,stop-gained,ANTXR1
rs121918732,14,-,24260555,CCACACTTCCCCCAACGCCATCATCGGCAAGTTTCAGTTCACAGTCCGCAC,G>A,G>S,missense,TGM1
rs770810694,12,+,49951107,CCGAGCCGCCTTCTACGTGGCTGCCCAGCTGCTGGGGGCTGTGGCCGGAGC,C>T,Q>*,stop-gained,AQP2
rs72657697,16,-,16212228,GTTGCAGAACCCCTGTCCAGAGACTGGGGCAGCCTTCCCCTCCAAAGCCAC,G>A,G>R,missense,ABCC6
rs760891216,3,-,48568819,AGAGCCTGGTGACAAGGGCTCAGCCGGGTTGCCAGGACTGCGTGGACTCCT,G>A,G>R,missense,COL7A1
rs28934585,17,+,7220519,TCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAG,C>T,P>L,missense,ACADVL
rs387907157,12,+,112489092,GCGGTCTCAGAGGTCAGGGATGGTCCAGACAGAAGCACAGTACCGATTTAT,C>T,Q>*,stop-gained,PTPN11
rs121912695,2,+,44320536,GAGGGACTCATCTTTGAACACAACACGAAGAATCTCCTTCATCGCCAAACA,C>T,T>M,missense,SLC3A1
rs863225273,3,-,38554320,CGCCACTACTACTTCACCAACAGCTGGAATATCTTCGACTTCGTGGTTGTC,G>A,W>*,stop-gained,SCN5A
rs1057520507,17,+,7224972,CTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTC,C>T,R>*,stop-gained,ACADVL
rs111033693,9,+,34647896,GCCACTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTC,C>T,R>W,missense,GALT
rs80359112_1,13,+,32371040,GGAAGCAGCAAAATATGTGGAGGCCCAACAAAAGAGACTAGAAGCCTTATT,C>T,Q>*,stop-gained,BRCA2
rs45517158,16,+,2062000,TGAACTGGTGGAGAGATGTGCGGACCAGAGGCCTGTGAGACCCCCTCCTGG,C>T,Q>*,stop-gained,TSC2
rs137853236,12,+,120997504,GCCTCCACGCAGGCACAGAGTGTGCCGGTCATCAACAGCATGGGCAGCAGC,C>T,P>L,missense,HNF1A
rs200594402,17,-,562543,GACCACCATTTTCCAGAAGTACCTCCGAGAATACGCCTGGAAAATCCTCTC,C>T,R>*,stop-gained,VPS53
rs386833587,9,-,6605186,GGAGTGTTGTTCCAGTACCCAGACACGGAGGGGAAGGTGGAAGACTTTACG,C>T,T>M,missense,GLDC
rs193922710,16,-,56502382,CACCAGTGCAGAGCAGGACCTGATCCGAGAGCTGAGTCAGAAGAAGCAGAA,C>T,R>*,stop-gained,BBS2
rs387906689,3,+,122341526,TGAGGACTTGGTACTTACTGGATACCAGGTTGACAAAAACAAGGATGACGA,C>T,Q>*,stop-gained,CSTA
rs779893091_1,11,-,68796900,CTGGTGGGAGGAGTACATCTACCTCCGAGGACGAGGGCCGCTCATGGTGAA,C>T,R>*,stop-gained,CPT1A
rs63750951_1,2,+,47403372,GGCCGCCCGGGAGGTGTTCAAGACCCAGGGGGTGATCAAGTACATGGGGCC,C>T,Q>*,stop-gained,MSH2
rs373551988,9,-,133353855,TTCCAAGGAGCTGTATATGATGCCCCGGACCATGGTGGACCCTGTCCGGGA,C>T,R>W,missense,SURF1
rs201855602,1,-,94043470,TCGTTGTCCCATCCTCCTAGCCTCACGGTGGCTGAGCACATGCTGTTCTAT,C>T,T>M,missense,ABCA4
rs61752067,X,-,18647213,TTCTTCGTGGACTGCAAACAAGGCCCGGCTCAACAGTCAAGGCTTTGGGTA,C>T,R>W,missense,RS1
rs398122403,21,-,32695106,CGAGCTGGGACCAGGTTTAATGTCCGGGGAACAAATGATGATGGTCATGTT,G>A,R>Q,missense,SYNJ1
rs61750187,17,+,8015781,AGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGT,C>T,R>W,missense,GUCY2D
rs182812968,11,+,6393981,CTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTAGCCTTCCTGGC,C>T,R>W,missense,SMPD1
rs397517234,10,+,74095751,GCAAGATCTTCTCGCCAAGTGTGACCGAGTGGACCAGCTGACAGCCCAGCT,C>T,R>*,stop-gained,VCL
rs121918354,1,+,201317635,CCTCCGCAGCCCCAACCAGAACGTCCAGCAGGCCGCGGCAGGGGCCCTGCG,C>T,Q>*,stop-gained,PKP1
rs786204753,11,-,6615217,GTGGCTGCACTTTCTGATGGCTACTGGGTGGTCAGCAACAGAGTGCCCATT,G>A,W>*,stop-gained,TPP1
rs863225401,2,+,47799866,GGTCTGATACCCGGCTCCCAGTTTTGGGATGCATCCAAAACTTTGAGAACT,G>A,W>*,stop-gained,MSH6
rs1329022055,6,-,75155795,ATCTGACCCAACCATGTCAAGCTTCCGAGTGACTTGGGAGCCTGCCCCTGG,C>T,R>*,stop-gained,COL12A1
rs765086319,16,-,74726273,GCTGTATCTCAGCTGGTCCTACTACCGAACCTTTGCCCAGGGCAACGTCCG,C>T,R>*,stop-gained,FA2H
rs373118250,2,+,61045818,CGTATCTGAAGAAGAAATTTCTTTCCGGGCTGGTGATATGCTGAACTTAGC,C>T,R>W,missense,PEX13
rs387906787,9,+,34657331,GAAGACAGTCCTAGGAGCTGATAGCCAGAGGTAGGACGTGAGGGAGCATGT,C>T,Q>*,stop-gained,IL11RA
rs778702777,6,-,49457837,AGTTCTTGCAAATTTTATAGTAACTGGAGAAGAACAAGGTGTACCTAAAGA,G>A,G>R,missense,MUT
rs104894161,10,-,62813563,GTTCTCCCGCTCTGACGAGCTGACACGGCACATCCGAATCCACACTGGGCA,C>T,R>W,missense,EGR2
rs952165627,11,+,72196013,CTCCTACAAGGTCAGCAACTACAGCCGAGGGAGTGGCCGCTGCATCCAGAT,C>T,R>*,stop-gained,FOLR1
rs765196598,3,-,196247479,CTCACACACAACTTCAAAGGCTTCACGGTGATGAACGAGAATGAGCGCTAT,C>T,T>M,missense,PCYT1A
rs72554649,X,+,78029271,AAAGGGCTACAATAGAAGTATCTCCCGAACAGAAACGATAATACGATTTGC,C>T,R>*,stop-gained,ATP7A
rs397514375,3,+,15644451,GAGATACCAGTTCAACACAAATGTCGTGTTCAGCAATAATGGAACCCTTGT,G>A,V>M,missense,BTD
rs786204545,2,+,240875180,GACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATG,G>A,W>*,stop-gained,AGXT
rs756933588,18,-,2929065,AACCTTGTAATAAGGATATATAATCGGTAAATACTCCTGCTTTTATAATTG,G>A,R>H,missense,LPIN2
rs121913349_1,7,-,140781618,GCAGATTACAGTGGGACAAAGAATTGGATCTGGATCATTTGGAACAGTCTA,G>A,G>R,missense,BRAF
rs1135402725,11,+,34995002,CTGCATTTTGGCGGTTGGGAGGTTCCGACCTGTGCTGAAGCTCACTGAGGA,C>T,R>*,stop-gained,PDHX
rs1333100080,22,-,50581796,ACTTGCGGAGCGGTCGCTGGGGCCCCAGCTGTACGGAGTCTTCCCAGAGGG,C>T,Q>*,stop-gained,CHKB
rs794727896,4,+,1002459,CAGCTGTTGCGCAAGCCGGTGCTCACGGCCATGGGGCTGCTGGCGCTGCTG,C>T,T>M,missense,IDUA
rs113994139,17,-,42322474,GACAGGTAAGACCCAGATCCAGTCCGTGGAACCATACACAAAGCAGCAGCT,G>A,V>M,missense,STAT3
rs767213728,15,+,40202608,TTCCAGTCCTCCTGCAGATCCCCCACGAGTTTTAGCTCAACGAAGACCCCT,C>T,R>*,stop-gained,BUB1B
rs6256_1,11,-,13492506,CAGAGATGCTGGTTCCCAGAGGCCCCGAAAAAAGGAAGACAATGTCTTGGT,C>T,R>*,stop-gained,PTH
rs761451474,7,+,4783793,CGGCTTCTTCTCCACGCCCAGGGCCCGGCAGGTGAGGCTGGGACTGTTCTG,C>T,R>W,missense,AP5Z1
rs1057516718,11,-,17397014,GCTGATCCCAAAGAACTGGCCAGACCAAGGGAAGATCCAGATCCAGAACCT,C>T,Q>*,stop-gained,ABCC8
rs121913003,2,+,219421532,CCTGGATGTGGAGATTGCCACCTACCGGAAGCTGCTGGAGGGAGAGGAGAG,C>T,R>W,missense,DES
rs193922423,3,+,122275959,TGGCTCCATCGTGTTTAAGGAAGTCGGGTATTACAACGTCTATGCCAAGAA,G>A,G>R,missense,CASR
rs72653748,16,-,16159495,GTGGAGCGGATGCAGGACTATGCCTGGACGCCCAAGGAGGTGATGGGCGGG,G>A,W>*,stop-gained,ABCC6
rs121908060,21,-,18359856,TTTTTGCTTTTAATTTAGTGTAAACCAAGGACTTTCCATTAAACTGAGCTT,C>T,Q>*,stop-gained,TMPRSS15
rs45469298,16,+,2070570,CACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTT,C>T,R>W,missense,TSC2
rs587782885_1,1,-,45332440,CGTAGCACGGGTGCTGTGCCGTGTCCGAGCCATTGGTGCTGATCCCAGCAG,C>T,R>*,stop-gained,MUTYH
rs137852970,11,-,62694594,CATTTCCTGCTACACCAGAGGTGGCCGAATCATCTCCACTTCTTCGCGTTC,C>T,R>*,stop-gained,BSCL2
rs146448211_1,21,-,36756558,CAACAGCGTCCTTCCCCTTTATTACCGATACTGGGTCCACAGGTCAGTGCT,C>T,R>*,stop-gained,HLCS
rs772110575,3,+,179198938,ATGATAGTGACTTTAGAATGCCTCCGTGAGGCTACATTAATAACCATAAAG,G>A,R>H,missense,PIK3CA
rs786203570_1,17,+,31327751,ACTGTCACAGCCCGACTCTATCCCCCAACACACCAAGATTCGGCCAAAAGA,C>T,Q>*,stop-gained,NF1
rs118204029,22,+,37724918,GACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGC,C>T,R>*,stop-gained,TRIOBP
rs1014839148,2,+,227248494,AGAACTTGATGCAAAAGGCGACCCCGGGTTGCCAGGGGCTCCAGGACCCCA,G>A,G>R,missense,COL4A3
rs761919591,11,+,68386565,GAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTC,C>T,A>V,missense,LRP5
rs879253926,6,+,109760319,TGTTGCTGCTGTGACCTATCTCAACCAATTTTTGCCTCCTGAGCACACTAT,C>T,Q>*,stop-gained,FIG4
rs886042154,X,-,32364704,ATGTCTCTGTACAATTAAGGAATACCAGAAACACATGGAAACTTTTGACCA,C>T,Q>*,stop-gained,DMD
rs1060503384,6,+,33441612,CTCCTGAAGCTGGGTCCACTGCCCCGGCTCCTCAACGACATCAGCACAGCT,G>A,R>Q,missense,SYNGAP1
rs780587095_1,14,+,21326131,GCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAA,C>T,R>*,stop-gained,RPGRIP1
rs1131691674_1,9,-,127825858,CTGAGGTGCGCGTGTCTCTGCAGCCCAGGGGTCACTGTCCTTCTGCATGCT,C>T,Q>*,stop-gained,ENG
rs527236156,17,+,21703981,TGAGGCGGACGGAGACCAGGACGGCCGAAGCCGGGATGGCCTCAGCCCCCA,C>T,R>*,stop-gained,KCNJ18
rs774419705,19,+,34399273,GAGGGGAAAATCGACGGAGGAGGCCCGAAAGGAGCTCCAGGCTGCGGGCAA,C>T,R>*,stop-gained,GPI
rs794728777,1,+,237778726,CAGCAGGCTGTGGGATGCTGTGGTCGGCTTTCTTCATGTGTTTGCCCATAT,G>A,G>S,missense,RYR2
rs796053254,1,-,42929210,TCAACACGGCCTTCACTGTCGTGTCGGTGAGTCTTTGCTTACTGGCCCCCC,G>A,S>S,synonymous-codon,SLC2A1
rs78347871_1,10,+,43121950,TTTATTCCATCTTCTCTTTAGGGTCGGATTCCAGTTAAATGGATGGCAATT,G>A,R>Q,missense,RET
rs386833748,4,+,15557451,TAGAAGCCAAGAGGTGCCAGAATTCCGAAATTATAAGCAAGTTCCAGTCTA,C>T,R>*,stop-gained,CC2D2A
rs121912430,12,-,102419637,TCGGAGGGCGCCTCAGACAGGCATCGTGGATGAGTGCTGCTTCCGGAGCTG,G>A,V>M,missense,IGF1
rs397518041,1,-,215845898,CACCTAAAGCCAAACACAGAGTATTGGATCTTTATCTCTGTCTTCAATGGA,G>A,W>*,stop-gained,USH2A
rs121434593,19,-,40237979,TTGCACTCGCGGGACGTGGTATACCGCGACATCAAGGTTAGTGGCAGGGTG,G>A,R>H,missense,AKT2
rs886042033,17,-,17215019,GAACCTGTCTGTGGATGTGGTGGACCAGTGCCTCGTCTGCCTCAAGGAGGA,C>T,Q>*,stop-gained,FLCN
rs121912703,17,+,63496977,GGCTGGCCGCAGTACAACTGGACGCCGAACTCCGGTACCGCCACCCACCCC,C>T,P>L,missense,ACE
rs121912671,2,+,232545570,GAATGAGGAGTGGTTCCTGGTGGGCCGAGTGCTGGACCGCGTCTGCTTCCT,C>T,R>*,stop-gained,CHRNG
rs1131691853,15,-,63678242,TATTCAGCTCATCCGTATCCTTCACCGAACAGACCGTTGGACTTACTGCAT,C>T,R>*,stop-gained,HERC1
rs199422116_0,7,+,140017747,CGGGGCCGGCCCACGGAGCTGCCTCGGGGTGCGTCTAGGGCTGCTTGAGGT,G>A,G>R,missense,TBXAS1
rs377735262,2,+,71551631,GGGGGAAGGTGTGGCTTATCGTGGCCGGCTTCTGCTCTCCCTGGAGACCAA,C>T,R>W,missense,DYSF
rs863224886,X,+,45090821,GGTTCATCTTTCCTGGAATATGGCACGAAATATCAAGGTCTCAGATCCAAA,C>T,R>*,stop-gained,KDM6A
rs794728060,2,+,189010723,GGCATTCCTTCGACTTCTCTCCAGCCGAGCTTCCCAGAACATCACATATCA,C>T,R>*,stop-gained,COL3A1
rs201958741,3,-,81577999,ACTCCTTTTACTCCAGTTATTGATCGTGGAATACAGCTTCATAAAATGATT,G>A,R>H,missense,GBE1
rs28933973,10,-,70599048,CTCCAACTACGGCACCCACTTCATCCGGGCTGTGGAGCTGGGTGGCCGCAT,C>T,R>W,missense,PRF1
rs121908086,2,+,1493976,GCTGAAAACTTCCTCCCCAGGGCTCGGACAGGGCCCCTGTTTGCCTGTCTC,G>A,R>Q,missense,TPO
rs72653745,16,-,16159549,ACACTGCAGTGGGTTGTTCGCAACTGGACAGACCTAGAGAACAGCATCGTG,G>A,W>*,stop-gained,ABCC6
rs370424081,17,+,35183460,AAGGTTCTTGGCTGACGGGAATGACCGGCTGAAGCTGGTGGTGCTGCTCTG,C>T,R>W,missense,UNC45B
rs766500689,1,+,236427427,TGATACAATTACTTTGAACTGCCCACGAAATTCAGATATGAAAAATCAGGT,C>T,R>*,stop-gained,EDARADD
rs515726181,8,-,102232232,GCCACTCCTAAGAAAGAGTTCTCGCCGGTTTGTCATCTTTCCAATCCAGTA,C>T,R>W,missense,RRM2B
rs74315379_1,1,-,201364336,AGAGCGGGCCGAGCAGCAGCGCATCCGGAATGAGCGGGAGAAGGAGCGGCA,C>T,R>W,missense,TNNT2
rs886041035,17,+,5000848,ACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAG,G>A,S>S,synonymous-codon,KIF1C
rs886041584,1,+,25811533,GGAGGTGGACATCGGCTACATACCCCAGGTGAGCGCACAGGAGGCTCCCAT,C>T,Q>*,stop-gained,SELENON
rs121917718,7,-,127613804,GGGTACCCACCCAGGGACCGGCCACCGGAATCGGACTATCTTCTCCCCAAG,C>T,R>W,missense,PAX4
rs397515907,11,-,47342697,ACCCGGGAGGAGACCTTCAAATACCGGTTCAAGAAGGACGGGCAGAGACAC,G>A,R>Q,missense,MYBPC3
rs1040238147,2,-,189050640,CCCCCCTGGTCCAGCTGGAACGACCGGGCAGAGAGGAATTGTTGGCATGCC,G>A,G>R,missense,COL5A2
rs387907076,2,+,3643912,AGCCGGCCTGGCCCGTGTCTTCATCGGCATCAACGACCTGGAGAAGGAGGG,G>A,G>S,missense,COLEC11
rs1085307357,2,+,202552758,GGAGACAATCGAAGACTGTTGGGACCAGGATGCAGAGGCTCGGCTTACTGC,C>T,Q>*,stop-gained,BMPR2
rs780960812,22,+,31821540,AGCCATCCAGATCCACCACCAGACCCGACAGAATATGGCGGAGCTACAAGG,C>T,R>*,stop-gained,DEPDC5
rs779092602,12,+,6450897,CTGTGTGTCCCCTCCTATTACAGCCCAAAGATCCCTGTGCAGCTCCGATTT,C>T,Q>*,stop-gained,CD27
rs587779777,7,-,5528458,CACCACCACGGCCGAGCGGGAAATCGTGCGTGACATTAAGGAGAAGCTGTG,G>A,V>M,missense,ACTB
rs398124295,1,+,45508974,GGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCC,G>A,W>*,stop-gained,MMACHC
rs587776940_1,18,-,45916110,TCTCATAAGCCAGCATCTCTGGTACCGAGAACAACCTATCCTCTTCCTCAT,C>T,R>*,stop-gained,EPG5
rs772430523,11,+,17596086,GGATATGTGTGTCCTGAATCCTCTCCGAGAACCATTTGCCAAGAAGGAGTG,C>T,R>*,stop-gained,OTOG
rs745368359,19,+,15544227,GTATCCGGAATACCAGGAGAAATGCCGAGAAGAGATTCAGGAAGTCATGAA,C>T,R>*,stop-gained,CYP4F22
rs751962801,12,+,110640437,TCAGTCTCTAAATAAAACGCTCACCCGACGGGAGGACACTGATGTGCTGCA,C>T,R>*,stop-gained,TCTN1
rs121917921,2,-,165991927,CTGGTTGTGGTGAACATGTACATCGCGGTCATCCTGGAGAACTTCAGTGTT,C>T,A>V,missense,SCN1A
rs886041259,2,+,165386971,TCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGT,G>A,G>R,missense,SCN2A
rs201632198,21,-,42388524,CTTTCTTTCTGCACATCGGCCAGTCCGGGTGGGTGGTCAGAATGCCGTGCT,C>T,R>W,missense,TMPRSS3
rs120074167,15,-,42730757,GAGCTCTGGCCCTCCCAGGTCCCTCCGGTCCTGGATGTGCGGACTCTGCTG,C>T,P>L,missense,CDAN1
rs786200961,8,-,41937538,ATTTCTCCACCGAAGGAGGAGAGTCCGAAAGCGCAAACACCACAATAGCAG,C>T,R>*,stop-gained,KAT6A
rs587784383,X,+,74524762,ACGCACTTACCGCATCTGGGCCTTCGGAATTGCTGCTGCTGCCCTTGGCTA,G>A,G>R,missense,SLC16A2
rs1057519599,1,-,155676622,GAAGGAGGTAGAGAAGGTTAAACCCCAGTGTAAGGAAGTTCATCAGACCCT,C>T,Q>*,stop-gained,YY1AP1
rs863223345,12,+,51789350,CTATTTTGTCATCTTCATCATCTTCGGCTCCTTCTTCACCCTGAACCTGTT,G>A,G>S,missense,SCN8A
rs387906991,1,+,12002028,GTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAG,C>T,T>M,missense,MFN2
rs371310428,18,+,36156575,TCTGGAGCAGATGAAAAAGTTCTTCGGGTTTTTTCTGCACCTCGGAATTTT,G>A,R>Q,missense,ELP2
rs397515330,10,+,51467819,TTGGCTATTCTTTACAACTGTACCCGGACAGCGACCGTCAAGAGTAAGACT,G>A,R>Q,missense,PRKG1
rs121909562,1,-,173911942,CTTCTTCTTTGCCAAACTGAACTGCCGACTCTATCGAAAAGCCAACAAATC,C>T,R>*,stop-gained,SERPINC1
rs121918568,11,+,36574244,GACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAA,C>T,R>W,missense,RAG1
rs193929373,7,-,44147723,CGAGTGGGGCGCCTTCGGGGACTCCGGCGAGCTGGACGAGTTCCTGCTGGA,G>A,G>S,missense,GCK
rs1057516564,1,+,75761125,ATTTTTTTCTTTTTAATTCTAGCACCAAGCAATATCATTTATGCTGGCTGA,C>T,Q>*,stop-gained,ACADM
rs554847663,11,+,17574890,CCCACCGGACACCTATCTGGACACCCAGGCTGACCTCTGTGTCCCCCGGTG,C>T,Q>*,stop-gained,OTOG
rs121918267,5,+,37020615,CCAAATTATGCATCGAGCTGAAAACCGAAAAAAGTTTCTTAGAAGCATTAT,C>T,R>*,stop-gained,NIPBL
rs104894793,X,+,48528287,CCTGACAGAGCACCGCGACGGATTCCAGCACGGAGAGCTGGGCCACCCTCT,C>T,Q>*,stop-gained,EBP
rs1131690846,13,+,48373424,CTCTAGGACTGTTATGAACACTATCCAACAATTAATGATGATTTTAAATTC,C>T,Q>*,stop-gained,RB1
rs794728204,15,-,48487312,GTCCCCCAACATCTCCGCGTGTATCGGTAAGGAGAAAGACTTTCACACCAT,G>A,D>N,missense,FBN1
rs151332020,17,+,75523764,AATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTG,G>A,R>Q,missense,TSEN54
rs875989879,8,+,60853017,GTGGTGGGAGTGTGGACGGCATGACCGAGACTTGCTGGTTGGTGCTGCTAA,C>T,R>*,stop-gained,CHD7
rs1060499549,9,+,106927699,TCTGGAGCGGGACAAAACGAAACTCCGAGCACTCAAATGTAGGCAGTGCTC,C>T,R>*,stop-gained,ZNF462
rs544369132,3,+,139348322,TGATATATCATATAGCATACCACACCGGGTGAGTATATGTCTAATCGCAAA,C>T,R>W,missense,MRPS22
rs751646311,5,+,119536458,GAAAAGTGGTTCTGGAAAAGTGTACCAAGGCCCTGCAAAAGGTGCTGCTGA,C>T,Q>*,stop-gained,HSD17B4
rs397517349,10,+,71793542,ACGGCCATTGACCACGACCTCAACCCAAAGCTAGAGTACCACATTGTCGGC,C>T,P>L,missense,CDH23
rs104894427,14,+,75004850,AGAGGCCTTCCTCAAAGAGGCTGCCCGAAAGAGGAAATTCCATGTCATTGT,C>T,R>*,stop-gained,EIF2B2
rs137852497_1,X,+,134498412,CAGCTTGCTGGTGAAAAGGACCCCACGAAGTGTTGGATATAAGCCAGACTG,C>T,R>*,stop-gained,HPRT1
rs121909654,5,-,180619680,GGGCAGCAGCTGTGACACCGTGGCCGTGAAAATGCTGAAAGGTGTGGGGTC,G>A,V>M,missense,FLT4
rs1057520384,11,-,2166003,GATGAGGAAATTGAGAAGCTGTCCACGGTGGGTTGACCCCTCCCTGCAGGG,C>T,T>M,missense,TH
rs200563280_1,19,+,38496466,CTGCCGCTTCCTCTGCTATTTCTGCCGAATCAGCCGGCAGAACCAGCGCTC,C>T,R>*,stop-gained,RYR1
rs199472793,11,+,2775966,GTGTCTTTTTGTCCCGCAGCAAGCGCGGAAGCCTTACGATGTGCGGGACGT,C>T,R>W,missense,KCNQ1
rs750987123,2,-,29073504,CAGGAAGTCAGGGAGGATCTGGCTTGGCCTTTGAAGAAAAGAGAGCCCCAG,G>A,W>*,stop-gained,C2orf71
rs63751668,2,+,47475270,TAAACAGATGTTCCACATCATTACTGGTAAAAAACCTGGTTTTTGGGCTTT,G>A,G>S,missense,MSH2
rs201536811,10,+,71709169,TGTGAGAACCGTGGTGGGCCTGGACCGGGAGACCACAGCCGCCTACATGCT,C>T,R>W,missense,CDH23
rs756572099_1,4,+,1004313,AGTTCGAGCCCTGGACTACTGGGCCCGACCAGGCCCCTTCTCGGACCCTGT,C>T,R>*,stop-gained,IDUA
rs121913078,10,+,89008915,CTTAGAAGTGGAAATAAACTGCACCCGGACCCAGAATACCAAGTGCAGATG,C>T,R>W,missense,FAS
rs137853124,14,+,21294785,CACATGTTGGTGAAGGAGCTTTCTTGGAAGCAACAGGATGAGATCAAAAGG,G>A,W>*,stop-gained,RPGRIP1
rs119479062,21,+,46411840,GGCGCCTCCCGAGCTGCAGTGGCTCCGAGCGCAGTGTGCCCGCCTCAGCCG,C>T,R>*,stop-gained,PCNT
rs769783985,2,-,227052395,ATCCATAGGAGCCATAGGACCTCCCGGAGATGAAGGAGAAATGGCTATCAT,G>A,G>R,missense,COL4A4
rs137853579,11,+,117993294,AGAGATCCACAATGGCTTCATCCTCGGGAAGATTCAGCTACCCAGGCCCAA,G>A,G>R,missense,IL10RA
rs199728019,11,-,47341995,CAGCCGCATAAAGGTGTCCCACATCGGGCGGTGAGTGTGCAGGGCAGGTGG,G>A,G>R,missense,MYBPC3
rs797045209,11,-,17404525,GTGCTACTTCATCCAGAAGTACTTCCGGGTGGCGTCCAGGTGATGGCCTCA,C>T,R>W,missense,ABCC8
rs11575937,1,+,156136985,GGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAG,G>A,R>Q,missense,LMNA
rs768443448_1,11,+,66526753,CCAGGCCATGAAACTCAATGTGCCCCGAAAGACCCGGCTTTACGTGGATCA,C>T,R>*,stop-gained,BBS1
rs116840815,X,+,71223750,GTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGT,C>T,R>W,missense,GJB1
rs587777850,20,-,49374425,GGCCACCATCACCATGACTACTGTTGGGTATGGAGACATCTACCCCAAGAC,G>A,G>R,missense,KCNB1
rs1057516931,11,+,6390797,GGCAGAGGCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCG,C>T,Q>*,stop-gained,SMPD1
rs137854476,15,-,48513552,GAGCACACTCACGCGGACAGAATGCCGAGGTATGGTCCTGGCTCCTGACGT,C>T,R>*,stop-gained,FBN1
rs587779836,11,+,108284316,ATTGCTAATCAGATTCAAGAGGACTGGAAAAGTCTTCTAACAGACTGCTTT,G>A,W>*,stop-gained,ATM
rs557327165,7,+,76302828,CAGGCCTTCGGGCTGCCCCGGCTGCCGGAGGAGTGGTCGCAGTGGTTAGGC,C>T,P>L,missense,HSPB1
rs1064796854,X,+,41229398,ATTTAGTAACTGTCCTGTTGCTTACCAAATCCTGCAGGTGAGGATTTTTTT,C>T,Q>*,stop-gained,USP9X
rs28941784,12,-,109561068,GATCAGCTCGGCGCTGCATTTCTGCCGGGCCGTGTGCCGCCGGGCCGAGAG,C>T,R>W,missense,MMAB
rs375882485,11,-,47342698,GACCCGGGAGGAGACCTTCAAATACCGGTTCAAGAAGGACGGGCAGAGACA,C>T,R>W,missense,MYBPC3
rs80357211,17,-,43094582,CAAACAGCCTGGCTTAGCAAGGAGCCAACATAACAGATGGGCTGGAAGTAA,C>T,Q>*,stop-gained,BRCA1
rs140233356_1,17,-,61685911,GGAAGATGAAGCAAAGATATGTGTCCAGGAACTACAGTGTCCTAAAATTAT,C>T,Q>*,stop-gained,BRIP1
rs363807,15,-,48445430,ATGCATTAATACAGTGGGGTCTTTCCAGTGCCAGTGCAATGAAGGCTATGA,C>T,Q>*,stop-gained,FBN1
rs1060503154,12,-,114398640,GACTCCCCCGCCACCGGGGCGCATTGGATGAGGCAGCTCGTCTCCTTCCAG,G>A,W>*,stop-gained,TBX5
rs864309724,3,-,169100922,TTTTCCAAGGTCTGCAAACCTAACACGGCACTTGAGAACCCACACAGGAGA,C>T,R>W,missense,MECOM
rs886041705,X,+,41347349,TGGAGGGTTTGGTGCCAGAGACTACCGACAAAGTAGCGGTGCCAGCAGTTC,C>T,R>*,stop-gained,DDX3X
rs63751017,2,+,47800714,TCCTGATTTGACTGTAGAATTGAACCGATGGGATACAGCCTTTGACCATGA,C>T,R>*,stop-gained,MSH6
rs121908464,16,+,57661707,TGCCTTTGCCCGCAGGTGCTGGATCCGGGACTCCCTGGTCAGCTACATCAC,C>T,R>W,missense,ADGRG1
rs150766139,16,-,2046238,CCTCAAGGTGCCAGTCTGGGAGCCCCAGGACTGGCAGCAACAGCTGGTCAA,C>T,Q>*,stop-gained,NTHL1
rs121918548,12,-,53307698,TTCTCTGCAGGGCTGGTCCACAGGCCGAATTGCCCACATCCCGCTGTACTT,C>T,R>*,stop-gained,AAAS
rs797046075,6,-,3225797,CCCTCTGGCAGGCCAGAGTGGAGCCGGGAATAACTGGGCCAAGGGCCACTA,G>A,G>R,missense,TUBB2B
rs886041761,1,-,110603902,CAGGCCATGTCACTGGCCATCCTCCGTGTCATCCGGTTGGTAAGAGTCTTT,G>A,R>H,missense,KCNA2
rs121965029,4,+,987916,CCTCACCGCGGCATCAAGCAGGTCCGGACCCACTGGCTGCTGGAGCTTGTC,G>A,R>Q,missense,IDUA
rs568761860_1,19,-,1802541,CCTGGACATTGGCAACCTCCTCCTCCGAGGCTGCAGGATTCGCAACACAGA,C>T,R>*,stop-gained,ATP8B3
rs863225001,X,-,32364605,GGATGAATCAGAGAAAAAGAAACCCCAGCAAAAAGAAGACGTGCTTAAGGT,C>T,Q>*,stop-gained,DMD
rs137852660,10,-,101775209,AGCGCCCTGCTCCTCTAGGAAGGCCCGGGCAGGGGCCCTGCGCTGGGCAGG,C>T,P>L,missense,FGF8
rs587779772,7,-,5529217,GCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAA,G>A,V>M,missense,ACTB
rs202114767,16,+,56904402,CGGCTTTCTCCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAATGAGATTGTG,G>A,R>Q,missense,SLC12A3
rs587784505,16,+,89934743,TCCCTGTACAGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTA,G>A,G>S,missense,TUBB3
rs886037931,1,-,225921209,AGTTGAGGCCTCCTGTATCCGAACACGGTGAGTCCATCCCGCGGACTTCTG,C>T,R>*,stop-gained,PYCR2
rs887126161,6,-,49448840,ACTTCGAATTGAAGAATGTGCTGCCCGAAGACAAGCTAGAATAGATTCTGG,C>T,R>*,stop-gained,MUT
rs199473576,3,-,38603897,ACTGCTGGTGCCCTGGCCCCTGCGCCGGACCAGTGCCCAGGGACAGCCCAG,C>T,R>W,missense,SCN5A
rs145119918_1,10,-,125767570,TCCCCTAGACACGGCGTTTTATGACCGAAGACAGAAGTTAATTTACTTCTT,C>T,R>*,stop-gained,MMP21
rs118192173,19,+,38443612,CCTGTATGGCCATGCCATCCTGCTCCGGCATGCACACAGCCGCATGGTGAG,C>T,R>W,missense,RYR1
rs1131692045,14,+,100276616,TGAGAGTTCAAAACTAAAACGACACCAACTGGTTCATACTGGAGAGAAGCC,C>T,Q>*,stop-gained,YY1
rs376663459,16,-,70514350,GGACAAGTCGGTCATTGAGCTCAGCCGACAGGGCAAAGAGGGTCAGCATCC,C>T,R>*,stop-gained,COG4
rs786204586,18,-,23539373,CTGTCGAGTGGACAATATCACTGACCAGTTCTGCAATGCTTCAGGTACCTT,C>T,Q>*,stop-gained,NPC1
rs104893637,2,-,20006173,TCTGGACATTGGGCCAGCCGACACGCGGGTGGCAGTGGTGAACTATGCTAG,C>T,R>W,missense,MATN3
rs886041411,14,-,35404620,CATGTTCCAGGCGGCCGAGCGCCCCCAGGAGTGGGCCATGGAGGGCCCCCG,C>T,Q>*,stop-gained,NFKBIA
rs1057518672,2,+,5694007,CTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTG,G>A,W>*,stop-gained,SOX11
rs61752895,1,-,68439586,CGTTGTACAATTCCCCTGCAGTGACCGATTCAAGCCATCTTACGTTCATAG,C>T,R>*,stop-gained,RPE65
rs1064793663,3,+,179199103,GAAACAAGACGACTTTGTGACCTTCGGCTTTTTCAACCCTTTTTAAAAGTA,G>A,R>Q,missense,PIK3CA
rs74315285,1,+,54999208,AGCCATGGCTGACGAGAAGACCTTCCGGATCGGCTTCATTGTGCTGGGGCT,C>T,R>W,missense,BSND
rs143492730,2,-,74145222,CCAAATTCTCAAAGAAAAGTTTCCACGAGCTACAGCTATAAAAGTCACTGA,C>T,R>*,stop-gained,BOLA3
rs397516209,14,-,23432713,ACTCCTGAGGTGGTGGCTGCCTACCGGGGCAAGAAGAGGAGCGAGGCCCCG,G>A,R>Q,missense,MYH7
rs587784137,5,+,177260120,TCACTTTACCCCTAGGCGGGGCTGCCGAAATCATGAGCATGTTAATGTTAG,C>T,R>*,stop-gained,NSD1
rs1238131472,22,+,50721740,TGAGGAGACCAGGGAGGAGCTGGCCCGAATTGGGTTGGTGCCACCCCCTGA,C>T,R>*,stop-gained,SHANK3
rs141156009,6,+,43520961,AAAGGTGGCCAGAGTTGCCAACCCCCGGCTGGATACCTTCAGCAGAGAAAT,C>T,R>W,missense,POLR1C
rs762667660,19,+,15544007,AAAGGAACTGTCAGACGAGGATATCCGAGCCGAAGCAGACACCTTCATGTT,C>T,R>*,stop-gained,CYP4F22
rs869025598,16,-,88716877,CCAGCCGCTGTTCACCATGAGCGCCCAGCAGCCGTCCATCATCCCCTTCAC,C>T,Q>*,stop-gained,PIEZO1
rs267607141,15,-,31070213,CTTTGTTTTCAGGTGTTGCTGTGGCCAGTTCACCAACCAGCATATCCCCCC,C>T,Q>*,stop-gained,TRPM1
rs398122995,2,+,73448424,TAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTT,C>T,Q>*,stop-gained,ALMS1
rs397508045_0,13,+,32319101,GATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCT,G>A,W>*,stop-gained,BRCA2
rs397508174_0,7,+,117542101,GTGATGGAGAATGTAACAGCCTTCTGGGAGGAGGTCAGAATTTTTAAAAAA,G>A,W>*,stop-gained,CFTR
rs62638214,5,-,178986393,CACGCCCATCGTCCGGGCCTCGGGCCGAGAGCTCAGCTACGTCCTCCTCAC,C>T,R>*,stop-gained,GRM6
rs121908753,7,+,117540285,ATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACA,G>A,R>Q,missense,CFTR
rs886043963,6,-,152344185,ACACGAACTTCAGAAGCACGTCAGCCGACAAGACACCCTGCAGCAGTGCCA,C>T,R>*,stop-gained,SYNE1
rs863223532,9,-,127829800,CCCGTCACAGCTGGAGCTGACTCTCCAGGCATCCAAGCAAAATGGCACCTG,C>T,Q>*,stop-gained,ENG
rs397508227,7,+,117559644,ATACAGAAGCGTCATCAAAGCATGCCAACTAGAAGAGGTAAGAAACTATGT,C>T,Q>*,stop-gained,CFTR
rs80356771,1,-,155235196,CTCTGCTGTTGTGGTCGTGCTAAACCGGTGAGGGCAATGGTGAGGTCTGGG,C>T,R>C,missense,GBA
rs767716511,5,-,13701349,GTTTACCTCGTGGGTTTTCAATGGCCGACCTCACTGCTTTTGGATGACGGG,C>T,R>*,stop-gained,DNAH5
rs886039542,12,-,47978659,CCCCCCTGGCCGAGCTGGTGAACCCGGCCTCCAAGGTCCTGCTGGACCCCC,G>A,G>S,missense,COL2A1
rs796052116,11,-,65554291,CCCGGACTTCACTGGGCGCTTCTGCCAGGTGCCCGCAGGAGGAGCCGGTGG,C>T,Q>*,stop-gained,LTBP3
rs1057519303,15,+,41812609,CAGCTACTTTGTCACTGCAGGCAACCGACACATCAAATTCTGGTATCTCGA,C>T,R>*,stop-gained,MAPKBP1
rs772241382,2,-,222232203,ACTAAAGAGGAAACAGCGCAGAAGCCGAACCACCTTCACAGCAGAACAGCT,C>T,R>*,stop-gained,PAX3
rs782290433,X,+,48684373,GGAGCATTGTGGGGCTGTGTGCTTCGTGAAGGATAACCCCCAGAAGTCCTA,G>A,V>M,missense,WAS
rs1057519223,14,-,36517612,CAGTCGCCGCGACGCGTGGCGGTGCCGGTCCTGGTGAAAGACGGCAAACCG,C>T,P>L,missense,NKX2-1
rs746136135,11,-,46875551,GACTGGCAGACTCGGAGCATCCACCGTGCTGACAAGGGTACTGGCAGCAAT,G>A,R>H,missense,LRP4
rs778251205,10,+,71617296,GTTATTGACATCAATGACAATGCCCCGGAGTTCAACAGCTCCGAGTACAGC,C>T,P>L,missense,CDH23
rs121918351,20,-,10658611,GTTGCCCACTTTGAGTATCAGATCCGCGTGACCTGTGATGACTACTACTAT,G>A,R>H,missense,JAG1
rs754242209,12,-,52515040,CTCTGGCTTCAGTGCAAGCAGTGGCCGAGGGCTGGGGGTGGGCTTTGGCAG,C>T,R>*,stop-gained,KRT5
rs121434300,14,-,91937114,AATGGCGGGTATTTATGCATTCCCCGGACAAACCCTGTGTATCGAGGGCCC,G>A,R>Q,missense,FBLN5
rs397514581,20,-,63444711,ATTCTGCGGATGATCCGCATGGACCGGCGGGGAGGCACCTGGAAGCTGCTG,G>A,R>Q,missense,KCNQ2
rs121912861,2,-,227022135,ACCTGCAGATGTGGATGACTGTCCCCGAATCCCAGGCCTTCCTGGGGCGCC,C>T,R>*,stop-gained,COL4A4
rs121909795,12,-,47857512,CGACCCCACCTACTCCGACTTCTGCCAGTTCCGGGTATGTCTGCCTGCTGG,C>T,Q>*,stop-gained,VDR
rs41265017,1,+,156176849,TCCCCATTGAGAGCACTCCGGGCTCGGGGCAAGGTTCAGGGCTGTGAGACC,G>A,R>Q,missense,SEMA4A
rs587777308,5,+,161873196,TTTAAAGGACCTATGACAGTCCTCCGGTTAAATAACCTAATGGCAAGTAAA,G>A,R>Q,missense,GABRA1
rs119472027,15,-,45106217,GCATCTCACTGTGCTCCGTGTGGTCCAGCTGCAGCCTCTGCAGCAGGTCAA,C>T,Q>*,stop-gained,DUOX2
rs727504498,6,+,7570477,CGAAGCCATCTTGGCTCTGTGGAACCAGCTCTACATCAACATGAAGAGCCT,C>T,Q>*,stop-gained,DSP
rs756231749_1,2,+,227310845,CCCTGGCTCCTGCCTGGAAGAATTCCGAGCCAGCCCATTTCTAGAATGTCA,C>T,R>*,stop-gained,COL4A3
rs398124611,X,+,17721541,TCCACACTGGACAAGCAGACCAACTGGAGCAAAGCACTACCTCTCCCGACG,G>A,W>*,stop-gained,NHS
rs1131691511,17,-,44859145,TGGCGAGCATGTGATCCTGGGCACTGGGGAGCTCTACCTGGACTGTGTGAT,G>A,G>R,missense,EFTUD2
rs122456135,X,-,49219344,GTCCCTGGCCGCTGAGGACCCCATCCGAGCCCACTCCTTCCGCAACCATGT,C>T,R>*,stop-gained,CACNA1F
rs61752068,X,-,18647212,TCTTCGTGGACTGCAAACAAGGCCCGGCTCAACAGTCAAGGCTTTGGGTAA,G>A,R>Q,missense,RS1
rs121908440,13,+,93830534,GACTGTGGGCAGAGAAGTTGCAAACCGAGTTTCCAAGGTAATTGAAAACGT,C>T,R>*,stop-gained,GPC6
rs760739894_1,17,-,35575853,TGTGTTTCATTATGTGAGGAGTCACCAAGCTTGTCCCATCACAGGTTATCC,C>T,Q>*,stop-gained,PEX12
rs755315693_1,16,-,1592486,GAAACACCTCACGCACTGCATCTTCCGGCTCCCCCCTCCTGGCGAGTAAGT,C>T,R>W,missense,IFT140
rs878854364,15,+,42386226,GACCCTGAACCAGCACCTTCTTTTCCGAGTCATACCCCATGATCAAAGTTT,C>T,R>*,stop-gained,CAPN3
rs1131692272,2,-,100006808,CAGCCTGGTCCAGCAGAAACCGACCGCGTATGTGAGGCCAATGGACGGCCA,G>A,A>T,missense,AFF3
rs74315425,20,-,51789010,CCCTTTGTTAGCAGCCCAGCCACGCCGACAGGCCAAGCAACATGGCTGCAC,C>T,R>*,stop-gained,SALL4
rs139751448,18,-,23556358,GACCAGCACTTTGGGCCTTTCTTCCGGACGGAGCAGCTCATCATCCGGGCC,G>A,R>Q,missense,NPC1
rs33947415,11,-,5226684,GAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCA,G>A,G>S,missense,HBB
rs727503860,8,+,60742522,AAACAGTGGTCAAGGACTAATGCACCAGCAGCCCATCCACCCCAGTGGCTC,C>T,Q>*,stop-gained,CHD7
rs794729132,12,-,32878483,AAGAGGAACAGCACAGTACAGCTCCCAGAAGTCCGTGGAAGAAAGGTCCTT,C>T,Q>*,stop-gained,PKP2
rs267607261,2,-,27312753,TTCCAGGGCCCTGTGGTAGGAGGCTGGTACAAGGTTTTGGATCGGTTCATC,G>A,W>*,stop-gained,MPV17
rs761533681,2,+,65020916,TGCCTCTTCTTTTCCCACCAGGGACCGGACCACCACGGTGGTGAATGTGGA,C>T,R>W,missense,SLC1A4
rs746408350_1,10,+,71322827,CTACAGAACCACAAGCAGCAGTCTCCGAGCTGACCAGGAGGCACTGCTTGA,C>T,R>*,stop-gained,SLC29A3
rs121434348,6,-,135457594,CCTTGTCTTGGGAGTTTACATTCACCGAACTGATAGACTTAAGTCAGATTT,C>T,R>*,stop-gained,AHI1
rs33931314,16,+,177120,CACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGG,C>T,P>L,missense,HBA1
rs373428259_1,5,+,132588872,AGAAGGGGAAGCAAAAACTGCCAACCAACTGATGGCAAGTATTTTGAAATA,C>T,Q>*,stop-gained,RAD50
rs104894740,X,-,25010262,GCTGGACTTGACCGAGGCCCGAGTCCAGGTGAGCTGCACAACAGAGGGAAG,C>T,Q>*,stop-gained,ARX
rs869025563,1,+,150511574,CTCCTGCTTCCAGGAGGAAGCTCCCCAGCCACACTACCAGCTCCGGGCCTG,C>T,Q>*,stop-gained,ECM1
rs766935302,3,-,81535220,TCCAAGCAAGAGCTACACTGACTACCGAGTTGGAACAGCATTGCCAGGGAA,C>T,R>*,stop-gained,GBE1
rs121912920,2,+,189002316,TCTTCAGGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCC,G>A,G>S,missense,COL3A1
rs1057519635,14,-,29626508,TTTTCCTGATGAAGTACTGGGTTCTGGACAGTTTGGAATTGTTTATGGAGG,G>A,G>R,missense,PRKD1
rs104893881_1,4,+,6302250,CAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCAC,C>T,Q>*,stop-gained,WFS1
rs869320802,4,-,1213028,TTCCTTCCTCCTGCATCTCCCAGGCCGGATCCCAGACAGCCTGAAGAACTG,C>T,R>W,missense,CTBP1
rs1057523647,14,-,75971629,GGAGAAAAATAGAACCAACCTATTCCGAGCAGAATTCCGGGTCTTGCGGGT,C>T,R>*,stop-gained,TGFB3
rs766328537,17,+,3476238,AGGAACCCATGGGAATGAGCTAACCGGAGTATTTCTGGTTAAGCATTGGCT,G>A,G>R,missense,ASPA
rs886039261,22,+,31815101,ACTGCCCACTGAGGAAGTGAGGAGCCAGGCTTCTGACGACAGCTCCCTAGG,C>T,Q>*,stop-gained,DEPDC5
rs878853904,17,+,31330357,TACCTTTAATTTAAAAATCGAGGGCCAGTTACTAGAGACATCAGGTTTATG,C>T,Q>*,stop-gained,NF1
rs1342429887,15,-,48797527,GCTGGAGAAAAATGTGGTAATGTCTGGGAAGAAAATAGAAGTAAAACTGAA,G>A,W>*,stop-gained,CEP152
rs121912575,6,-,32084536,GGACGGGCAGCCCCAGGTGGTGCCCGTGGAAGGACCCCAGCGCTCGGCCGT,G>A,V>M,missense,TNXB
rs199706529,4,-,101083203,ACTTGTTATCTATACTCCGAGCCCACGAAGCCCAAGATGCAGGGTGAGCAG,C>T,H>H,synonymous-codon,PPP3CA
rs776976178_1,1,-,113897926,TATTGTAGTGGTGGTGCAGACTTTCCGAGACCTGGTTTGGTTGTGTCCTCA,C>T,R>*,stop-gained,AP4B1
rs369742878,15,-,31031046,GGAGAAGCCCTCTTGGAAACTGGCCCGAAACATCTTCTACATGCCCTACTG,C>T,R>*,stop-gained,TRPM1
rs79843600,19,+,12813164,CAGTTTGTCCGGTTCAGCTGGCGCACGGCCCAGACCATCCTGGAGAAAGAG,C>T,T>M,missense,RNASEH2A
rs1064793896,1,-,209638591,GCAGCCTCACAACTACTACAGTCACCGAGTAGAGAATGTGGCTTCATCCTC,C>T,R>*,stop-gained,LAMB3
rs116987552,11,-,64759751,AAAGGACCGCAATGTGGCCACCCCACGAGACTACTACTTTGCTCTGGCCCA,C>T,R>*,stop-gained,PYGM
rs1057518970,19,+,38448398,GCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCT,C>T,R>W,missense,RYR1
rs1064797017,2,+,188994243,TTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGAT,G>A,G>S,missense,COL3A1
rs80358476,13,+,32333333,ATCAGAACTAATTAACTGTTCAGCCCAGTTTGAAGCAAATGCTTTTGAAGC,C>T,Q>*,stop-gained,BRCA2
rs587783505,16,-,3729226,GGTGTCCACAGGGAAGCCTACCAGCCAGGTGCCGGCCCCCCCACCCCCGGC,C>T,Q>*,stop-gained,CREBBP
rs374664941,10,-,15644210,ATGTCTGTTTTTAGACATTGCCATCGGAGTGCCTTTTGCAGGCAAGGATCA,G>A,G>R,missense,ITGA8
rs786205000,14,+,28767415,CGGCCACCACAACAGCCACCACCCCCAGCACCACCACCACCACCACCACCA,C>T,Q>*,stop-gained,FOXG1
rs128624218,X,+,153726062,GCTGCGGGCCTTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCG,G>A,G>R,missense,ABCD1
rs786203932,11,+,112094902,GGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGA,G>A,G>R,missense,SDHD
rs796051995,1,+,45507491,GCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCA,C>T,R>*,stop-gained,MMACHC
rs146579504,20,+,46725727,CAGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGGT,C>T,R>W,missense,SLC2A10
rs58932704,1,+,156136413,GGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGT,C>T,R>W,missense,LMNA
rs63750135,16,-,16150197,GGGCAGGTGGCAGAGAGCGGCAGCCCGGCCCAGCTGCTGGCCCAGAAGGGC,C>T,P>L,missense,ABCC6
rs118204100,11,+,119091507,ACAGCTGGCCTGCAGCGCATGGGCTGGCACAACCGGGTGGGGCAGGTAGGG,G>A,W>*,stop-gained,HMBS
rs770066171,1,+,63631749,GAAAGAACTACTTTCTGGGCCAAACCGACTGAAGATCCGTATTGATGCTAT,C>T,R>*,stop-gained,PGM1
rs752034900,22,+,41527315,ACATGGCATCAGGTGGGTGGTGATCGGAGACGAGAACTACGGCGAGGGCTC,G>A,G>R,missense,ACO2
rs200780796,1,-,205211450,GGCGGAATGATCCGCGAGCTGTGCCGGGGCTTCGGCCGCTACCGCCGCTAC,G>A,R>Q,missense,DSTYK
rs587777529,11,-,64739431,CTTCAACACGCTGATGGCAGTGGTCGGGGGCCTGAGCCACAGCTCCATCTC,G>A,G>R,missense,RASGRP2
rs398123014_1,9,-,35740833,CCCCTACACGATGGCTGTGGCTGCACGAGTCACGGTAAGGAAAGAGCCTGC,C>T,R>*,stop-gained,GBA2
rs373780305,5,+,90642886,AGAATCTGTAGAGCTCCACATCATCCGATCAAGGGGGTCCCTTGTTAAGCA,C>T,R>*,stop-gained,ADGRV1
rs267607199_1,7,+,66633425,CTCCGAGGGCCGGTACTTCATCGACCGAGATGGCACACACTTTGGGTATGT,C>T,R>*,stop-gained,KCTD7
rs1047016803,16,+,57651502,CAAAGCCTCTAGCCTCCTCTGCTTCCAGCACCAGGAGGAGAGCCTGGCTCA,C>T,Q>*,stop-gained,ADGRG1
rs62644503,12,-,102852902,CCTGTGGCTGGCCTGCTTTCCTCTCGGGATTTCTTGGGTGGCCTGGCCTTC,G>A,R>Q,missense,PAH
rs200483245,17,+,80117047,GGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGG,C>T,Q>*,stop-gained,GAA
rs397517976,1,-,215728142,AGTGCTCATTCAGTTCTGTTGAATTGGACAAAGCCAGAATCTCCCAATGGC,G>A,W>*,stop-gained,USH2A
rs387906981_1,4,+,39268040,CTTGTACATGGCTCTGAAGCAATACCGAGAAGCTGCCCAGACTGCCATCAT,C>T,R>*,stop-gained,WDR19
rs80358472_1,13,+,32333303,TAAAGGAAAAAAAATACCGAAAGACCAAAAATCAGAACTAATTAACTGTTC,C>T,Q>*,stop-gained,BRCA2
rs780133289,2,-,96254056,TTGGGCTTCTGAACTCATCTTGGCCCAGCAGCAGCAGCATAAGAAGTACCA,C>T,Q>*,stop-gained,TMEM127
rs794728325,15,-,48520659,TGAGATGTGTCCCATCAGAGCAACCGGTAAGAGCCCTTCCAGTTATCTGCA,G>A,E>K,missense,FBN1
rs886041858,2,-,1912024,TGTCAACAGCAACAGGAACTCCCACCGAAGGTAAGCCACGCGTGGGTCACT,C>T,R>*,stop-gained,MYT1L
rs121913230,7,+,55181437,TGTCCGGGAACACAAAGACAATATTGGCTCCCAGTACCTGCTCAACTGGTG,G>A,G>S,missense,EGFR
rs387906523,18,+,31593025,TGACACCTGGGAGCCATTTGCCTCTGGGTAAGTTGCCAAAGAACCCTCCCA,G>A,G>R,missense,TTR
rs863224880,11,+,68906074,CAATACCGGGTGTCTTCCAGGTCCTGGCAGGAGAACATCTCTCTGAAAGAG,G>A,W>*,stop-gained,IGHMBP2
rs141677867,7,-,87423940,GCCATTGCCAATGGGGGGCTTCAGCCGGCATTTTCAGTCATATTCTCAGAG,C>T,P>L,missense,ABCB4
rs786203898_1,17,-,61715964,AATTCAAGCATACAGGGCCTTAAACCAGGCCCTTGGTAGGTAAGTGGAGTG,C>T,Q>*,stop-gained,BRIP1
rs886042095,2,+,71611549,CAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAG,C>T,Q>*,stop-gained,DYSF
rs1064797258,2,+,98389756,ATCGCCCTGCCTGTCTTCTATAACTGGTATCTGCTTATTTGCAGGTAAGCG,G>A,W>*,stop-gained,CNGA3
rs11549407,11,-,5226774,GCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGA,C>T,Q>*,stop-gained,HBB
rs118203957,5,+,69433088,CAGATTGCCACATCATTCGGAAAGCCGACAGGTTAGTATGTGCAGCTGCCT,C>T,R>*,stop-gained,MARVELD2
rs121964856,1,-,201365297,GCGGTCCACCCACAGGACATCCACCGGAAGCGCATGGAGAAGGACCTGAAT,G>A,R>Q,missense,TNNT2
rs397517012,12,-,32822526,TATCTATATTCAAAACCGGAATATCCAGACTGACAACAACAAAAGTATTGG,C>T,Q>*,stop-gained,PKP2
rs896581899,4,+,5810377,GACTAAAAGGAAGAAGCCCCTGCCCCAGGAAAGAGGGGACCTGGGGGTGCC,C>T,Q>*,stop-gained,EVC
rs104893818,3,+,30674130,GTGGGAACTGCAAGATACATGGCTCCAGAAGTCCTAGAATCCAGGATGAAT,C>T,P>L,missense,TGFBR2
rs886038892,2,+,189006964,CCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTGCTCC,G>A,G>S,missense,COL3A1
rs121909835,5,-,149883511,GAAGAGGACGATGTTCCAAAAGATCGTGGATCAGTCTAAGACATATGAGAG,G>A,V>M,missense,PDE6A
rs41282065,17,+,74762028,TCCCTGCAGCGCGAGCTTCGGCCTCGGCTCTGTACCATGAAGAAGGGCCCC,G>A,R>Q,missense,SLC9A3R1
rs397517404,18,-,31086694,GCTACTGACAAAGATGAGCCTGACACGATGCACACACGCCTGAAGTACTCC,C>T,T>M,missense,DSC2
rs104893694,3,+,122257347,GGAGCAACTGGCTCAGGCGTCTCCACGGCAGTGGCAAATCTGCTGGGGCTC,C>T,T>M,missense,CASR
rs111033418,1,-,215780023,TCTTCAGGTAGTTGCAGCTACTACCCAAGGAGTTCCGGAGAGCATCCTGCC,C>T,Q>*,stop-gained,USH2A
rs387907156,5,-,137637338,ACCAACGAGTGGTTCTTTGTGGCCCCGATGAACACGCGGCGGAGCAGTGTG,C>T,P>L,missense,KLHL3
rs138977195,16,+,56887967,AATGAAGCCCAACATTCTGGTGGTTGGGTTCAAGAAGAACTGGCAGTCGGC,G>A,G>R,missense,SLC12A3
rs1060501984,3,+,30691426,GATCTCTTTCCCGCTACAGGGCATCCAGATGGTGTGTGAGACGTTGACTGA,C>T,Q>*,stop-gained,TGFBR2
rs587780462,10,+,71362408,CGTCCACCTGAAGACTGTGGTCTTCCAGTCCGATGTGTACCCCGCACTCCT,C>T,Q>*,stop-gained,SLC29A3
rs587783643,14,+,28768078,CCCGTCGAGCGACGACGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCG,G>A,G>S,missense,FOXG1
rs80358532,13,+,32337173,AGACACAGGTGATAAACAAGCAACCCAAGTGTCAATTAAAAAAGATTTGGT,C>T,Q>*,stop-gained,BRCA2
rs556401323,11,+,126338325,TCTCGACAAGAAGGCTGAAGCGGACCGGATTGTTTTCGAGAACCCAGATCC,C>T,R>W,missense,DCPS
rs886037874,9,-,92268295,ATGTGATCTGTTTATTGCAGGGTCCCAGAGTTGGTACGAGAAAAACGATTT,C>T,P>L,missense,IARS
rs878853281,9,-,109141360,TTGAGTTGGTATTATCTGTTTGCTTGGGGTCCAGCCATTCAGGGTAAGCTT,G>A,W>*,stop-gained,FRRS1L
rs1114167399,17,-,50186847,TGGTTTCGACTTCAGCTTCCTGCCCCAGCCACCTCAAGAGAAGGCTCACGA,C>T,Q>*,stop-gained,COL1A1
rs267608561,X,+,18603963,CCACAGATCTAACAGCAAGGACATCCAGAACCTGAGTGTAGGCCTGCCCCG,C>T,Q>*,stop-gained,CDKL5
rs398123776,2,+,71569878,CTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTG,C>T,Q>*,stop-gained,DYSF
rs886039413,11,-,64809818,CTATGCCCGCTTCACCGCCCAGATCCGAGGCGCCGTCGACCTGTCCCTCTA,C>T,R>*,stop-gained,MEN1
rs794728156,6,+,7542066,TTCTCGGCGCGGCGTGATCACCGACCAGAACTCGGACGGCTACTGGTGGGT,C>T,Q>*,stop-gained,DSP
rs28941476,16,-,88648103,ACTTCTCCCCGCAGTCCTCATCACCGGGGGCATCGTGGCCACAGCTGGGCG,G>A,G>R,missense,CYBA
rs876657413,10,-,100154922,TTTGCTAGATGCTGCATTCCTGGCCCGAGAGAAAGCGAAAGCAGATGCTGA,C>T,R>*,stop-gained,ERLIN1
rs74315458,22,-,50627374,CTCCTGACCGGCCGGCTCCCGGTTCGGATGGGCATGTACCCTGGCGTCCTG,G>A,R>Q,missense,ARSA
rs267607235,4,-,127921639,GAACAAGCCTGGTGCCTCTACACCCCGGTGATTCATCTGGCCCAGTTCCTT,C>T,P>L,missense,MFSD8
rs147462227,10,-,70600458,CAGCAATGTGCATGTGTCTGTGGCCGGCTCACACTCACAGGCAGCCAACTT,G>A,G>S,missense,PRF1
rs397517589,2,-,178617845,GGAGTACAGTTTCCGAGTGAGAGCCCAAAATCGAATTGGAGTTGGAAAACC,C>T,Q>*,stop-gained,TTN
rs77975504,12,-,109792695,TGGATGAATGCCCTTTACTTCACCCGTGGGCTGAAGCTGACGGGGACCTAT,G>A,R>H,missense,TRPV4
rs121917740,1,-,204155078,CTGGGCCCTGGGGGCCACCTTCATCCGAAAGTTCTACACAGAGTTTGATCG,C>T,R>*,stop-gained,REN
rs146093755,16,-,88840999,GGCCGGCTACGTCAGCAAGATTGTCGGCAAGTGGTAAGTCTCCTGGCCACG,G>A,G>S,missense,GALNS
rs782632137,X,-,53238216,TTCAATGCCCCCAGCCTCCAGGACCGGCTGCGCTTTACATCCGACCTGCGC,G>A,R>Q,missense,IQSEC2
rs749040743,19,+,38467655,CGTTGTGACCGGGTGCGCATCTTCCGGGCAGAGAAATCCTATACAGTGCAG,G>A,R>Q,missense,RYR1
rs281875211,17,-,28402276,TCATTAGTCATCACACCTGTCATCCGGGCTAAACTCTCCAAGCTGGTGAGA,G>A,R>Q,missense,SLC46A1
rs747446711_0,2,-,214745084,ATGCTTGGGATTCTCAATGGATGCTGGATTCTAAAATTTGAATGTAAGTGT,G>A,W>*,stop-gained,BARD1
rs724159971,4,-,127920743,CCAAGTGTATGCTCACTGGGGACCACGATGGGCATTCAGCCTGGTGTGTGG,C>T,R>*,stop-gained,MFSD8
rs727503249,14,-,23419588,TCAGGCTAACCTGGAGAAGATGTGCCGGACCTTGGAAGACCAGATGAATGA,C>T,R>W,missense,MYH7
rs727503602,2,-,178604049,AAAAGAGAAGAGGGAAGTCCTTATTGGTCACGTGTTAGCCGAGCACCAATA,G>A,W>*,stop-gained,TTN
rs121918292,20,-,6107594,ACGCTCCCTTATGGAACAAGGCATCCAAGAGGATGAGCAGCTGCTCTTACG,C>T,Q>*,stop-gained,FERMT1
rs370673772,19,+,39422762,CACCCATGACATTCCCAAGTTCCCCGGAGACTCCCAGGTGCCTGGCGACAG,G>A,G>R,missense,PLEKHG2
rs104886039,11,-,71444022,TCCACCTATAACGAGGAAAGCCGCCCAGCTCTATACCTTGTGGGTCACCTT,C>T,Q>*,stop-gained,DHCR7
rs72653750,16,-,16154943,CAGGAGGCAGCTGAGGGTGGGATCTGGATCGACGGGGTCCCCATTGCCCAC,G>A,W>*,stop-gained,ABCC6
rs104894827,X,-,101398033,AGCCTGGGCTGTAGCTATGATAAACCGGCAGGAGATTGGTGGACCTCGCTC,C>T,R>W,missense,GLA
rs121912485,1,-,209618555,TGTTCTGCAGAAGATGAATGAGATCCAGGCCATTGCAGCCAGGCTCCCCAA,C>T,Q>*,stop-gained,LAMB3
rs1085307710,3,-,38551289,TGGCATCGACGACATGTTCAACTTCCAGACCTTCGCCAACAGCATGCTGTG,C>T,Q>*,stop-gained,SCN5A
rs118203631,9,-,132903785,TCCTTCAGATGAGATCCGCACCCTCCGAGACCAGTTGCTTTTACTGCACAA,C>T,R>*,stop-gained,TSC1
rs142896669,9,-,127818173,CTACACAGTACCCATACCCAAAACCGGCACCCTCAGCTGCACGGTAGCCCT,G>A,G>S,missense,ENG
rs104894711,19,+,41869042,CACACTACCCCCAGCTTCCACAGCGCGGCACCTGTACCTCCGGGGTGGCGC,C>T,R>W,missense,RPS19
rs745996955,15,-,72375834,CCTTTACCCGAACAACTTTCAATTCCAGTACGATGTCAGCTCGGCCGCGCA,C>T,Q>*,stop-gained,HEXA
rs72645334,17,-,50196634,TTTGGATGGTGCCAAGGGAGATGCTGGTCCTGCTGGTCCTAAGGTAAGAGG,G>A,G>S,missense,COL1A1
rs1057519301,2,-,8731940,CCCAAGTCTTTCGAGTCTCAATTCCCAGGATTCCAGTATTGAAATTTCAAA,C>T,Q>*,stop-gained,KIDINS220
rs766988509,11,+,68389975,GCGTGTGCTGGTCAATGCCTCCCTCGGGTGGCCCAACGGCCTGGCCCTGGA,G>A,G>R,missense,LRP5
rs780233639,5,-,126552106,GATCGCCCTGGAAATTATGTAGAACCGACAATTGTGACAGGTCTTGGCCAC,C>T,P>L,missense,ALDH7A1
rs886041713,12,-,47980562,TCCTCAGGGCCCCTCTGGAGCACCTGGGCCTCAGGTGGGTAACGCTGCACT,G>A,G>R,missense,COL2A1
rs1064793992,3,+,122261612,CCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATCAT,C>T,Q>*,stop-gained,CASR
rs121909283,10,-,70435399,GTTCCAGGTGGACTTCAACCTGATCGGATGGGGCTCCTGGATCATCTACCC,G>A,G>R,missense,NODAL
rs281865563,12,-,42468783,GGTGAAGTTGCAGTGTTCGCCTCCCGTGCGGGCCCTGGTGTGTGCTGGCAC,G>A,R>H,missense,PRICKLE1
rs80359210,13,+,32394808,TATGTTAATTGCTGCAAGCAACCTCCAGTGGCGACCAGAATCCAAATCAGG,C>T,Q>*,stop-gained,BRCA2
rs1057516327,17,+,80116991,AGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGG,G>A,W>*,stop-gained,GAA
rs761974928,6,-,98926619,GAGGACGCCACCTAATTTTCAGAGCCAGGACTATGTGGAACTTACTTTTGA,C>T,Q>*,stop-gained,FBXL4
rs387906973,2,+,238848570,CGCCAGGTACATAGACTTCCTCTACCAGGTCCTGCAGAGCGACGAGATGGA,C>T,Q>*,stop-gained,TWIST2
rs113994150,19,+,54191536,GCTGCTGCTGATGCCCGAAGAGGCGCGGCTCTTGGCCGAGATCGGCGCCGT,C>T,R>W,missense,TSEN34
rs794727957,21,-,36765068,GCTGGGACAGAGGATCCCGTTTGTCCAGCATCTGATGTCCGTGGCTGTCGT,C>T,Q>*,stop-gained,HLCS
rs1057519305,15,+,41816937,CTGAAACTGCTAGCATCGGCGAGCCGGGACCGGCTGATCCATGTGCTGGAT,G>A,R>Q,missense,MAPKBP1
rs199472894,7,-,150952720,CTCATCCTGCTGCTGGTCATCTACACGGCTGTCTTCACACCCTACTCGGCT,C>T,T>M,missense,KCNH2
rs61748558,1,-,94063224,ACTGGAGGAAAACATGTTCTGGGCCGGAGTGGTATTCCCTGACATGTATCC,G>A,G>R,missense,ABCA4
rs63750636,2,+,47476492,GTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATT,C>T,R>*,stop-gained,MSH2
rs28939080,5,-,14713644,AGTCACAGTGAGGGCGCATCTCACCGGGTGGCTGATGACACTGAAGAAAAC,G>A,G>R,missense,ANKH
rs375907609_1,10,+,71811364,CAAGGAGCAGCTACGGAATCTTTTCCGGAACTACAACGTCCTGGACGTGCA,C>T,R>W,missense,CDH23
rs749203329,19,-,6213787,CTGGGTTCCCTGCAGGTGTCAGGCCGGAGGAGCCCCGAGTCCTGCAGCAAG,G>A,R>Q,missense,MLLT1
rs145171629_0,19,-,53810801,CTCTCCAGGAGCTCATCCGAGTTCCCGAGCGCCTCCTTTTCATCATCGACG,C>T,P>P,synonymous-codon,NLRP12
rs587780495,2,-,178539459,AAAGAGAATGTAGAATACCATTTCCGTGTTTCAGCAGAAAACCAGTTTGGC,G>A,R>H,missense,TTN
rs373331232_1,4,-,16023380,AGTGCTAGGAGGCGGAATTCTTGACCGACTGAGACCCAACATCATCCCTGT,C>T,R>*,stop-gained,PROM1
rs373278668,9,-,120408401,GAATGACAAGCTATTGCAGTCTCTCCGAGTGGAGCTGAAGGCGTATGAGAA,C>T,R>*,stop-gained,CDK5RAP2
rs371443644,16,+,56865414,TGCATGCGCACCTTTGGCTACAACACGATCGATGTGGTGCCCACATATGAG,C>T,T>M,missense,SLC12A3
rs529294719,17,-,37733611,CAAATCTTGTACCAGGCCTACGATCGGCAAAAGAACCCCAGCAAGGAAGAG,G>A,R>Q,missense,HNF1B
rs372350326,16,-,74727307,AAGTACGATGAGTGGGTTCACCAGCCGGTGACCAGGCCCATCCGCCTCTTC,C>T,P>L,missense,FA2H
rs28939710,1,+,40820180,ATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCA,G>A,G>S,missense,KCNQ4
rs386833479,7,-,107791854,CCCAGCCATAATCTACCTTTTCTTCGGCACTTCCAGACACATATCCGTGGG,G>A,G>S,missense,SLC26A3
rs748979061,5,-,178986876,TGGCAGTGCCAGCAGTGGCGGGTACCAGGCAGTGGGCCAGTGGGCAGAGAC,C>T,Q>*,stop-gained,GRM6
rs373371572,19,+,11116936,AAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAGGATGAAAA,C>T,R>W,missense,LDLR
rs780626848,15,-,91003111,CTTAGGTTTGATCCCCAAGGATTACCGATCTCTGAAAACACAGTATCTGCA,C>T,R>*,stop-gained,VPS33B
rs911580078,1,-,94056638,CTGCCACACATCCTGTGCTTCGCCTGGCAGGACCGCATGACCGCTGAGCTG,G>A,W>*,stop-gained,ABCA4
rs1057524843,6,-,135428643,AGTGAGGATGGTATAGTGTATGTTTGGAACCCAGAAACAGGTGAATGTTTA,G>A,W>*,stop-gained,AHI1
rs770981889,1,-,100214854,GAATTAAAACCCATTGCATTTGCTCGTGGAATTAAACTCTCCTTTATGCCT,G>A,R>H,missense,DBT
rs118204048,2,-,149570117,TCTTTTTGAAACTGATGAACGCTACCGACATTTAGGATTCTCTGTTGATGA,C>T,R>*,stop-gained,MMADHC
rs786204581,7,+,107663366,CATCTTGGAGTGGCTCCCCAAATACCGAGTCAAGGAATGGCTGCTTAGTGA,C>T,R>*,stop-gained,SLC26A4
rs121908489_1,7,-,94628303,TACAAATTTAATGGGTTACCCAGACCGACCTGGATGGCTTCGATATATCCA,C>T,R>*,stop-gained,SGCE
rs587781219,15,-,25354414,CTTGAATTTGCAGAATCTAGATTTCCAAGCACTAGAAGAAACTACAGAATA,C>T,Q>*,stop-gained,UBE3A
rs5736,16,+,23189600,CTTCACAGGGAGGAAGCGGAAAGTCGGCGGTAGCATCATTCACAAGGCTTC,G>A,G>S,missense,SCNN1G
rs912448894,19,+,11105337,GACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGC,C>T,P>L,missense,LDLR
rs754360599,16,-,16190334,AATGAGGCAGAAGGACTCACGGGCACGGCTCACCAGCTCTATCCTCAGGAA,C>T,R>W,missense,ABCC6
rs757316102,10,-,14936550,ACTCTCTTACCAGCTGGTCACTGTCCGGGATCAGTTATGTAAGGGGGTCAT,C>T,P>L,missense,DCLRE1C
rs587779484,2,+,188999551,AATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAA,G>A,G>R,missense,COL3A1
rs387907154,14,-,24240669,TCTAGGCCGACGAAGAGTTCAGTCCCAATGGGCCTCCACTAGGGGAGGCCA,C>T,Q>*,stop-gained,TINF2
rs121909507,2,+,232535148,CCCACAGGAGAAAGACAGCTGGAACCGAGTGGCCCGCACAGTGGACCGCCT,C>T,R>*,stop-gained,CHRND
rs751376824,15,-,89321254,TATCTCACTCTTCCCACAGCCTGACCGAGTAGGCAGTGAGTTGAAAGCCAT,C>T,R>*,stop-gained,POLG
rs121908614,8,-,64624493,GATAAAAGGTTGGCTTCCTTATCTTGGAGTGGTCCTGAACTTACGAAAAGA,G>A,G>R,missense,CYP7B1
rs796053368,9,+,127678510,ACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGTT,C>T,P>L,missense,STXBP1
rs369488112,17,-,19343796,CAAGGTGGTGGCTCAGGGTGAAGGCCGGGAAGGTAAAGCTCCCTCCCCTCT,C>T,A>A,synonymous-codon,B9D1
rs121912853_0,3,-,48566719,CTGACAGGGTGAGCGAGGTCCCCCCGGAGAGAGAGTGGTGGGGGCTCCTGG,G>A,G>R,missense,COL7A1
rs397515419,1,-,145917809,GCCTGCCCTCTCCTCTAGGGCCGCCCAGTATGCTTGCTCTCTTCTTGGCCA,C>T,Q>*,stop-gained,PEX11B
rs1223920489,17,+,44558988,CATCGGCACGTCCTTCCTCCTGGCCGGCTTCGTGTCGCTCTTCCGCATCCG,G>A,G>S,missense,FZD2
rs886044894,8,-,143922749,CAAGCTGCGTGTGGCCGAGATGAGCCGAGCCCAGGCCCGCGCTGAGGAGGA,C>T,R>*,stop-gained,PLEC
rs121912844,3,-,48575419,CCCCCCCGGGCCTTCCGGCCTTGCCGGGGAGCCTGGAAAGCCTGGTATTCC,G>A,G>R,missense,COL7A1
rs587781994_1,11,+,108333909,AGAAGGCATAAATATTCCAGCAGACCAGCCAATTACTAAACTTAAGAATTT,C>T,Q>*,stop-gained,ATM
rs104894261,11,-,64804588,TCCTGGGACTGTCGCTGGCACAGCCCGAGGCCCTGAAGGTGGCAGCACGGC,C>T,R>*,stop-gained,MEN1
rs587783248,1,-,197104018,AGCATTTGTTAGAGGATACCTTGTCCGAAAGCAGATGAGGTTACAAAGAAA,C>T,R>*,stop-gained,ASPM
rs398122382,12,-,57630182,ACTACAACTGGTCACTTACAGCAGCCGAAGCTACCAGACCAACACAGCAGA,C>T,R>*,stop-gained,B4GALNT1
rs1451230055,9,+,137163794,GCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGAT,G>A,G>R,missense,GRIN1
rs200888240_1,11,-,78127411,CCATTCCACAGATTTTGAAGTACACCGAAACTGGCTTGCTATCACTCACAG,C>T,R>*,stop-gained,ALG8
rs377297166_1,13,-,51941185,ACCTTCTCTGTGCTGATTGGAAACCGTGAGTGGCTGAGGCGCAACGGTTTA,G>A,R>H,missense,ATP7B
rs72651645,17,-,50191463,TGATGCTGGTGCCCCTGGAGCTCCCGGTAGCCAGGGCGCCCCTGGCCTTCA,G>A,G>S,missense,COL1A1
rs202152511,2,-,166277138,GATCAATGATGACTGTACGCTCCCACGGTGGCACATGAACGACTTCTTCCA,C>T,R>W,missense,SCN9A
rs587782103,11,+,108271406,TTTCTTACAGTAATTGGAGCATTTTGGTAGGTACAGTCTATTTTGTGGTCC,G>A,W>*,stop-gained,ATM
rs769531968,20,-,10643807,AACTGGTACCGGTGCGAATGTGCCCCGGGTTTTGCTGGGCCCGACTGCAGA,C>T,P>L,missense,JAG1
rs121434347,5,+,1213517,TGTCGTCCTGACCATCTTCCTCATCCGAGGCCTGACGCTGAAGGGCGCCAC,C>T,R>*,stop-gained,SLC6A19
rs387907087,11,+,126276476,AGACACCAGTGGAGCCTATTTTCGCCGGGAAGGATTAGGTAGCAACTACCT,C>T,R>W,missense,FOXRED1
rs1057517711,12,+,2566466,AATCGGTTCTGCAGAAGGAAGTGCCGCGCCGCAGTCAAGTCTAATGTCTTC,G>A,R>H,missense,CACNA1C
rs749890642,6,-,32089277,TGGACAGGAGTACCAGGTCACTGTCCGAGCCCTTCGAGGGACCAGCTGGGG,C>T,R>*,stop-gained,TNXB
rs727503326,6,+,75844906,ATTTGTTTTGTCATAGTATTTAAACCGAGGCTGCACTAGATACTTTGCTAA,C>T,R>*,stop-gained,MYO6
rs762678772,6,-,83182916,GGTGTATTGTCGAAACACGGGTGGCCGATATGGAAAGGCAACTATAGAAGG,C>T,R>*,stop-gained,PGM3
rs747702749,4,+,186276365,TTGCTTGTTTTTTACCTTCTTTTCCCAGGAATGGCCCAAAGAATCTCAAAG,C>T,Q>*,stop-gained,F11
rs201238640,1,-,215674637,TATAACTTCTCCCTTGTAGCCTGCACGAATGGAGGTTGCACAGCTAGTGTG,C>T,T>M,missense,USH2A
rs193922110_1,13,-,51935659,CCCATCGGCATTGTGCTGCAGCCCTGGATGGGCTCAGCGGCCATGGCAGCC,G>A,W>*,stop-gained,ATP7B
rs202001274_1,15,+,41815388,CGGGGTGCATGGCTCCACCCTCCACCGAAACATCCTCAGCAGTGTGAGCCC,C>T,R>*,stop-gained,MAPKBP1
rs796052118,6,-,158980867,CGAGACATCACAAAAAATCGCCGCCCGAGCATTTGCACAGCGTTACCTGGC,C>T,R>*,stop-gained,RSPH3
rs267607118,8,+,93755044,GGCCCAGACCTTCTCTTTCCCTTTCCAGCAGCCGGAGAAGTGCGACAACAA,C>T,Q>*,stop-gained,TMEM67
rs869025366,2,+,202513739,TTTAGGTCCACCTCATTCATTTAACCGAGATGAGACAATAATCATTGCTTT,C>T,R>*,stop-gained,BMPR2
rs28931584,17,-,44257514,CGAGACCAACGGTCTAGAGTACATCGTGGGCCGCGTGTGGATCGGCTTCTG,G>A,V>M,missense,SLC4A1
rs869320772,4,+,515999,TGATATCCGACATCCAAAGCACGTCCAACAGACGGATGTGGCTGCGACACT,C>T,Q>*,stop-gained,PIGG
rs869312992,7,+,66089146,AAACCCCGACAGTTTGGAGCTGATCCGGAGCAAGGCTGGGCGTGTGTTTGG,C>T,R>W,missense,ASL
rs797045044,X,-,154358228,GTTCACCATCGATGCAAAGGACGCCGGGGAGGGCCTGCTGGCTGTCCAGAT,G>A,G>R,missense,FLNA
rs1057522256,2,-,178590992,GCAGAAGGGCTGTGAATATGTTTTCCGAGTTAGAGCAGAGAATAAGATAGG,C>T,R>*,stop-gained,TTN
rs886042195,9,-,36218201,TGCGAAACTTGGCAATGCGAAGGCCCAGAGCATCCTAAGAACAGGTGAGCA,C>T,Q>*,stop-gained,GNE
rs121912870,12,-,47975971,TCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGTAAGTGTCCTGACTCC,G>A,G>S,missense,COL2A1
rs1366269616,19,-,35126416,CCACCTGCTGCTGGCCTCGGCTTCCCAGCGGCCCGTGCTCTTCCACTGGAC,C>T,Q>*,stop-gained,LGI4
rs104894470,14,+,67727097,TGGCAAGATTCCCTTCCACGACCTCCAGAGCGAGAAGCGCTACAGCAGGGG,C>T,Q>*,stop-gained,RDH12
rs398123861,X,-,32614320,ACCTGATCTTGAAGACCTAAAACGCCAAGTACAACAACATAAGGTAGGTGT,C>T,Q>*,stop-gained,DMD
rs200670286,1,+,173857592,TGTCATAGCCTTCCCAAAGTCCTTCCGGGGACATGACCTCATGAGCAATAC,C>T,R>W,missense,DARS2
rs1057524114,12,-,47978674,TCGAGGAGACAGCGGCCCCCCTGGCCGAGCTGGTGAACCCGGCCTCCAAGG,C>T,R>*,stop-gained,COL2A1
rs121912938,21,+,45989129,GCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTG,G>A,G>R,missense,COL6A1
rs768431507,2,-,178605011,TTCCAATCGCCTTGGCTCAGTGTTCCGAAATGTTCACGTTGAAGTATATGG,C>T,R>*,stop-gained,TTN
rs387906784,9,+,34659834,GCCCCATGCTGTACGAGTCAGTGCCCGGGACTTTCTAGATGCTGGCACCTG,C>T,R>W,missense,IL11RA
rs886037868,2,-,60546202,TGACCTCCTCACCTGTGGGCAGTGCCAGATGAACTTCCCATTGGGGGACAT,C>T,Q>*,stop-gained,BCL11A
rs752202089,4,+,122743915,TACACCAAAGATTGAGGCGTGGCGCCGAGCATTGGATTTAGTATTGTTAGT,C>T,R>*,stop-gained,BBS12
rs886039713,16,-,89284890,ACCAAGCACTGGCGGACAGACAATTGGAAAACCATTTCTTCCCCGGCTTGG,G>A,W>*,stop-gained,ANKRD11
rs72651661,17,-,50190825,TCCTCCTGGCCCTGCTGGTGCCCCTGGTGACAAGGTGAGGTGGCCGCCTCC,G>A,G>S,missense,COL1A1
rs74315322,1,+,154275165,CTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCC,C>T,Q>*,stop-gained,HAX1
rs104893773,3,+,129529049,CTCTCTGCATGGATACTTCGTCTTCGGGCCCACAGGATGCAATTTGGAGGG,G>A,G>R,missense,RHO
rs201998231,1,-,201092011,GGATGTCAAGGCCCTCAGAGCCTTCCGAGTGCTCAGACCCCTCCGGCTGGT,C>T,R>*,stop-gained,CACNA1S
rs1131691104,17,+,31230366,AAGGAGAGATGACCTCTCATTTTGCCAAGAGATGAAATTTAGGTGAGTTCT,C>T,Q>*,stop-gained,NF1
rs397515861,15,-,48411339,GAAGCCAATGTGAGTCTTGCAAGTTGGGATGTTGAGAAGACAGCCATCTTT,G>A,W>*,stop-gained,FBN1
rs200090033,21,-,42388503,AGTCCGGGTGGGTGGTCAGAATGCCGTGCTCCAGGTGTTCACAGCTGCTTC,G>A,V>M,missense,TMPRSS3
rs387907044_1,15,-,89649810,CCTGGAAGTGTACAAGGAGGAGTTCCGAGACCTGCTCGAGGTGGGCACTGC,C>T,R>*,stop-gained,KIF7
rs199638097,16,-,88842811,CCTGCAGATGGGATGGGGTGACCTCGGGGTGTATGGAGAGCCCTCCAGAGA,G>A,G>R,missense,GALNS
rs61749704,X,+,18584338,GTTGCCACCAGATGGTATCGGTCCCCAGAACTCTTACTTGGGTGAGTTACC,C>T,P>L,missense,CDKL5
rs879254099,X,+,71224350,GGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCG,C>T,R>W,missense,GJB1
rs1057519546,6,+,33432806,CGCTTCCGAAGTGCTGACCATGACCGGTACAGGGGCTGGAGCATGTGGGAT,G>A,R>Q,missense,SYNGAP1
rs386134155,3,-,149209349,TAAAGAAAAAGAAAAACATATTGACCGAGAATTTGTGGTGATGTTTTCTGT,C>T,R>*,stop-gained,CP
rs730882144,11,-,119341739,AAGCCTGCCCTGCTACCAGCATTTCCGGAGGCTCCTGTGTGGGCTGCTTGT,C>T,R>W,missense,MFRP
rs527236137,1,-,215674901,TATAGCTATGCACTCCAAGCCTGCACGAGTGGAGGATGCTCCACCAGCAAA,C>T,T>M,missense,USH2A
rs121917739,15,+,40718818,TGTTCTCTATAGCTTCCCATTGACCGGGGTGGAGGTGAAGGAAAGGCCATG,G>A,R>Q,missense,RAD51
rs1229952265,8,+,100213149,CCAGCCGTGCGTCATGGGCAACATCCAGAAGAAGCTGACTGGCAAAGCCGA,C>T,Q>*,stop-gained,SPAG1
rs374646337,9,-,91724255,CTTCAAGGACATCCACAGCCGGCTCCGAGCCTGGGGCAACCTTTCCAACTA,C>T,R>*,stop-gained,ROR2
rs1057517651,9,-,136677545,GGCCTCCCCTGCAGCATCATCGGCTGGTTCGTGCGAAGCTTCAAGTACTTT,G>A,W>*,stop-gained,AGPAT2
rs863223354,1,+,237500743,TGCTCGTACTGTAAGCTCACCAAACCAACATCTGTTAAGAACTGATGATGT,C>T,Q>*,stop-gained,RYR2
rs745688776_1,12,-,12150877,CAAGCAACTCTATTGGATTGACTCACGACAAAACATGATCCGAAAGGCACA,C>T,R>*,stop-gained,LRP6
rs797044992,15,-,84645651,GTGTGCTGAAGTTGGGAGCTGGGGCCAGGGCCCTGGGCCCAGCATTGCCAG,C>T,Q>*,stop-gained,WDR73
rs762388072,1,-,215674580,TCTGCCTGGACAATGGAGGCCCTGCCAGAGAACATGGACTCTCCAACATTG,C>T,P>L,missense,USH2A
rs104894619,17,-,15231047,GTGATGAGTGCTGCGGCCATCTACACGGTGAGGCACCCGGAGTGGCATCTC,C>T,T>M,missense,PMP22
rs74767530,7,+,117627537,TTTATTTCAGATGCGATCTGTGAGCCGAGTCTTTAAGTTCATTGACATGCC,C>T,R>*,stop-gained,CFTR
rs373182378,4,+,155713269,TGTGGTCTTAATAGGGGAACAAGCCCGAGCTCAAGATGGCCTGAAGAAGAG,C>T,R>*,stop-gained,GUCY1A3
rs119462981,9,+,131510401,CGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCA,C>T,Q>*,stop-gained,POMT1
rs794728757,1,+,237648486,CCTGACATGTCTGCGGGGTTTTGCCCAGATCACAAGGCAGCCATGGTTTTA,C>T,P>L,missense,RYR2
rs863224974,X,+,71223751,TACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTA,G>A,R>Q,missense,GJB1
rs138215926,4,-,105399137,ATTGATGATGTTAAGAAGTTCAAACCGGGTTACCTGGAAGCTACTCTTAAT,C>T,P>L,missense,PPA2
rs61748550,1,-,94079339,GTACACTCCTGATTCACCTGCAGCACGAAGGATACTGAAGAATGTAAGATC,C>T,R>*,stop-gained,ABCA4
rs1281090187,3,-,14148665,CAGCATGATGCCTATTGGCTGTGTCCAGCTGAACCTGCCCAATCTACACCG,C>T,Q>*,stop-gained,XPC
rs144567652_1,14,+,45198718,GACTACCTTAATTGGCGCTGGAATCCGAATTCTTTTCAGTTCCTGCCAAGA,C>T,R>*,stop-gained,FANCM
rs122460152,X,-,2953224,TGGTTACCGTGTTCTTCAGTGGACCGGAGCATCTGGAGGTCTTCCAACAAA,G>A,G>R,missense,ARSE
rs906553840,7,+,94409403,TGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAG,G>A,G>S,missense,COL1A2
rs794727488,1,-,229432868,CTCGGCTCTGCAGGGCGTCATGGTCGGTATGGGTCAGAAAGATTCCTACGT,G>A,G>S,missense,ACTA1
rs863224947,1,-,161998260,CAACGGCCTGATGACCAGTGTCACCCGGAGGCCTGCAGCCACCCGTCAGGG,C>T,R>W,missense,OLFML2B
rs104894705,19,+,1391006,CCCGCGCCAGTCCGACGTCATGATCGTGGCCGGCACACTCACCAACAAGAT,G>A,V>M,missense,NDUFS7
rs371582393,10,-,133368949,GGTGAGAAGGCCCAGTTTGCACAGCCGGAGATCTTAATAGGAACCATCCCA,C>T,P>L,missense,ECHS1
rs80356655,7,-,44147830,GTCCCCCCGACCTCCACCCCAGGCACGGGCTGCAATGCCTGCTACATGGAG,C>T,T>M,missense,GCK
rs121908886,5,+,132387044,TGCCAGGTTCATCCCTGAGTCCCCCCGATGGCTCATCTCTCAGGGACGATT,C>T,R>*,stop-gained,SLC22A5
rs386352319,11,+,128911724,CTCCATTGAGACCGAAACAACCATTGGGTATGGCTTCCGAGTCATCACAGA,G>A,G>R,missense,KCNJ5
rs376161880,11,-,78106895,ACCCCAAGGGCCCAGAGGCTTTCTCCGATGTCTAACTCTTTGTGCCTTGAG,C>T,R>*,stop-gained,ALG8
rs1025967277,19,-,11576452,CCTCAGCCAGCAGCCTGAGAGGCCCCGAGACGTGAAGCTGGCCCGCACACA,C>T,R>*,stop-gained,ACP5
rs387906630,3,-,128485837,ATCCCCACCTACCCCTCCTATGTGCCGGCGGCTGCCCACGACTACAGCAGC,C>T,P>L,missense,GATA2
rs756868374,17,+,74310083,TGGGTGTCTCATCGCCTGCGGCTCCCAGCTGGGGACAACCACCCTGCTGGA,C>T,Q>*,stop-gained,DNAI2
rs201859109,2,-,227089931,GATATACTGTAGTGTTGGGAACCCCGGACCACAAGGAATAAAAGGCAAAGT,G>A,G>R,missense,COL4A4
rs727502855,14,-,77286815,CTCTTTTCTAACTTCTAGAACTTCCCGGAACTTGCACAGTCACTATCATGA,C>T,R>W,missense,POMT2
rs121908191,5,+,157241663,CAACCCAGGCCTGGTGACTCGACTCCGGTATCCAGTTTGTTTTGGGAGGCA,C>T,R>W,missense,ITK
rs72653787,16,-,16178950,GTGGCCACAGGGCATGAATCTCTCCGGAGGCCAGAAGCAGCGGCTGAGCCT,G>A,G>R,missense,ABCC6
rs281875209,17,-,28404685,GGCCGATGCCTGGGTAGCTGAGATCGGCCTGGCCTTCAACATCCTGGGGAT,G>A,G>S,missense,SLC46A1
rs80356711,20,+,4699698,TGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGA,C>T,Q>*,stop-gained,PRNP
rs439898,1,-,155238630,TGTAGGAATCGGATATAACATCATCCGGGTACCCATGGCCAGCTGTGACTT,C>T,R>W,missense,GBA
rs878854957_1,17,-,43063365,TTCTATGATCTCTTTAGGGGTGACCCAGTCTATTAAAGAAAGAAAAATGCT,C>T,Q>*,stop-gained,BRCA1
rs199469638,5,-,137661950,CATGGCAAAGCTGATGGAACATGTCCGACTTCCTCTCTTACCTAGGGACTA,C>T,R>*,stop-gained,KLHL3
rs886041378,3,+,181712541,CCGCGGGCAGCGGCGCAAGATGGCCCAGGAGAACCCCAAGATGCACAACTC,C>T,Q>*,stop-gained,SOX2
rs387906606,9,+,134805044,AGGATTACGTGGTTTCCCTGGGGACCGAGGGCTTCCTGGTCCAGTGGTGAG,C>T,R>*,stop-gained,COL5A1
rs368452607_1,2,-,178588700,GGAGAAAAAGGAAAAGCATTCAACACGATGGGTCCCTGTCAACAAGAGTGC,C>T,R>*,stop-gained,TTN
rs281875170,11,+,57600377,CAGCCTCCTTACCCAGGTCCTGCTCGGTAAGACCCTGCTTGAATTCTCTCC,G>A,G>R,missense,SERPING1
rs989552169,5,+,127455541,TTATGTGGAGATGAAATCGCCGGCACGAAGAGATTCCCCATATGCAGAGAT,C>T,R>*,stop-gained,MEGF10
rs1131692041,X,+,154400615,GCGCAGGGCCAAGTTCAAGTTTCCTGGCCGCCAGAAGGTATGTAGTGCTGC,G>A,G>S,missense,RPL10
rs759607901,6,+,43604637,TAGGTCTTGGCTATATGCCATGTGCCGAGGGATTGAACATGATCCAGTTAA,C>T,R>*,stop-gained,POLH
rs45448101,16,+,2087866,ACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGT,C>T,Q>*,stop-gained,TSC2
rs750831299,11,+,67609490,GTGGTGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGGGAGATC,C>T,P>L,missense,NDUFV1
rs769116796,8,+,103318758,AAAATTAATTGACACTTTTGGGATCCGATGGCCTGAGGAGCTTGAATGTGA,C>T,R>*,stop-gained,FZD6
rs730880522,19,-,4099333,CCTGTCCCTGGTGGAGCTGGCCGTCGGAAGGTACCCCATCCCCCCGCCCGA,G>A,G>R,missense,MAP2K2
rs74315496,22,+,29661313,GATCTCCTTCCCGTGGAATGAAATCCGAAACATCTCGTACAGTGACAAGGA,C>T,R>*,stop-gained,NF2
rs398122937,13,-,20142862,CGACCGCGGCAGGGTGCGCATGGCCGGGGCGCTGCTGCGGACCTACGTCTT,G>A,G>R,missense,GJA3
rs1064797002,2,-,239144705,TCTCCTTTTTGTGCAGCTTCTGAACCGAATCTGAAATTACGGTCCAGGCTA,C>T,P>L,missense,HDAC4
rs770522674,6,-,52022858,AGCTGCTGTGTGTGGTGCTCCCTGCCGAGTCCTGGCTAATGCTACAGTGTC,C>T,R>*,stop-gained,PKHD1
rs753101269,7,+,21786732,TCCTCGGGGAAGAGTGCCCAAAGACCGAAGTTGGAAAGCAGCTAAAGTCTT,C>T,R>*,stop-gained,DNAH11
rs794728615_1,11,-,64810025,GCGCCTGTTTGCTGCCGAGCTGGGCCGAGAGGAGCCGGACCTGGTGCTCCT,C>T,R>*,stop-gained,MEN1
rs587779674,2,+,189004293,CCCACTTGGGATTGCTGGGATCACTGGAGCACGGGGTCTTGCAGGACCACC,G>A,G>R,missense,COL3A1
rs727503725,1,-,216000490,CATGTGGGCTGTACAAACAGTTCCTGGGTCCTACTGTACACAGCACAGCTG,G>A,W>*,stop-gained,USH2A
rs80358851,13,+,32340479,ACGTACTCCAGAACATTTAATATCCCAAAAAGGCTTTTCATATAATGTGGT,C>T,Q>*,stop-gained,BRCA2
rs886037776,9,+,137817477,CTCTACCGGACGCGGGACATGGGCTGGGGCGTGCGGTCCCTGCAGGACATC,G>A,W>*,stop-gained,EHMT1
rs373824502_1,1,+,244841992,AGATGTTGAAAATACTCCCTGCGCCCGGCATTCAATATTGTATGGTTCATT,C>T,R>W,missense,COX20
rs72656332,17,-,50186895,TCCCCCCGGCCCTCCTGGACCTCCTGGTCCCCCTGGTCCTCCCAGCGCTGG,G>A,G>S,missense,COL1A1
rs372949456_1,8,+,99275218,TCCAGATTTGATGGCCTTCACAATCCAAGTTCCACAATATATTGACTACTG,C>T,Q>*,stop-gained,VPS13B
rs786204536,17,+,7222014,AAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTG,C>T,R>*,stop-gained,ACADVL
rs906563423,17,-,15260660,GTGCTGGTGCTGCTGTTCGTCTCCACGATCGTCAGCGTGAGTGCCTGGCGG,C>T,T>M,missense,PMP22
rs121918555,20,+,59024379,CTACCTCACAGTGGCCTGCATTTTCCGGGGCAAGATGTCCACCAAGGAAGT,C>T,R>W,missense,TUBB1
rs869320661,19,-,41984965,GCTTGAGGCTGTCATCTTCCTCATCGGCATCATCGTGGCCAATGTCCCAGA,G>A,G>S,missense,ATP1A3
rs121912702,1,-,230710247,CCAGGGCAGGGCTGATAGCCAGGCCCAGCTGCTGCTGTCCACGGTGGTGGG,C>T,Q>*,stop-gained,AGT
rs119479065,2,-,43824015,CCTCCTTTTCTTCGTTCTGCGGGTCCGAAGCAATGTGCTAAAGGGTGCTAT,C>T,R>*,stop-gained,ABCG5
rs120074131,18,-,23533470,CAAAATTTGGAGGGATTGTGGTGTTGGCTTTTGCCAAATCTCAAATTTTCC,G>A,L>L,synonymous-codon,NPC1
rs797045947,1,+,243286332,AGTTGTGCTTGAAAACGAAGGGCTCCAGCAACAGCTAAAATCTCAAAGACA,C>T,Q>*,stop-gained,SDCCAG8
rs778377449,12,+,32625747,TAAAGAACCTTTCAATGCACTGACACGAAGGAGGCATCATTGTCGAGCATG,C>T,R>*,stop-gained,FGD4
rs879255152,19,+,11123197,AGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAA,C>T,Q>*,stop-gained,LDLR
rs886041918,18,+,2694683,GAAAAATTATTTCCACCTTTGGACACGACAGTTAGCGTAAGTAATTATATT,C>T,R>*,stop-gained,SMCHD1
rs777849257,11,+,108253938,GAGAGAATGTGGTATAGAAAAGCACCAGTCCAGTATTGGCTTCTCTGTCCA,C>T,Q>*,stop-gained,ATM
rs557172581,2,+,202555352,CTCTATCCATCATACTGACAGCATCGTGAAGAATATTTCCTCTGAGCATTC,G>A,V>M,missense,BMPR2
rs1057521648,9,-,127818341,CCCATCCGTCTCCGAGTTCCTGCTCCAGTTAGACAGCTGCCACCTGGACTT,C>T,Q>*,stop-gained,ENG
rs63751298,2,+,47471023,AAATAAAACAGAATATGAAGAAGCCCAGGATGCCATTGTTAAAGAAATTGT,C>T,Q>*,stop-gained,MSH2
rs587777297,3,+,119490588,TTTTCGAGGCGTAGCTGCAAGTTTCCGGTTTAAACACCTCTTCCTGTGTGG,C>T,R>W,missense,POGLUT1
rs200846354,8,-,10608139,GGCCCTGGAGGTTGAAGTGGAGACCCAGGAGGCAGAAGGGGAGGCCCAGCC,C>T,Q>*,stop-gained,RP1L1
rs751000085_1,1,-,17028680,TGGAGGCAACACTCTAGCTTGCACCCGAAGGATTGACACCAACCTCAATAA,C>T,R>*,stop-gained,SDHB
rs63750624,2,+,47410211,CGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGTGGATTCCATACA,G>A,G>R,missense,MSH2
rs786202023,17,+,31232083,TTTTTTTTTTTTCAGAGATTTGGACCAGGCAAGCATGGAAGCAGTAGTTTC,C>T,Q>*,stop-gained,NF1
rs730882008,17,-,7673775,GTTTGTGCCTGTCCTGGGAGAGACCGGCGCACAGAGGAAGAGAATCTCCGC,G>A,R>Q,missense,TP53
rs765998048,11,+,61956966,GAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCT,C>T,R>W,missense,BEST1
rs201968272,12,+,31089147,GTTCGGCTGGTCTCCCTTGGCTCCCGGCAGGTAAACAGTAGCCAGTATTTC,G>A,R>Q,missense,DDX11
rs139515727,6,+,30915985,AGGAGGGCATTTTTGTTGCAGGCACCGGATGCGTGGGGATCAAGTGCTGTG,C>T,R>W,missense,VARS2
rs1085307902,17,-,43104187,TCTAAAAGATGAAGTTTCTATCATCCAAAGTATGGGCTACAGAAACCGTGC,C>T,Q>*,stop-gained,BRCA1
rs727504247,1,-,201359217,GGGAAGGCTAAAGTCACCGGGCGCTGGAAATAGAGCCTGGCCTCCTTCACC,G>A,W>*,stop-gained,TNNT2
rs1175530571,7,+,40078817,ACAGGCTCTTCAGTGCGAGTTCCTCCGAGATGTGGAACCCTCAAAAATGCC,C>T,R>*,stop-gained,CDK13
rs137854620,3,-,38557268,TCCTCCCAGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTG,G>A,W>*,stop-gained,SCN5A
rs777061964,21,-,33584692,TATTGGCTCCACCCTGCTTTGTCTTGGCTACCACTGTTCCCTCGTATTGGA,G>A,W>*,stop-gained,DONSON
rs876661330,10,-,101771522,CACCTTTGGAAGCAGAGTTCGAGTCCGAGGAGCCGAGACGGGCCTCTACAT,C>T,R>*,stop-gained,FGF8
rs760935667,2,-,151519759,TTGCATTTGCTGTTAGGTTAAATACCGAGAAAATTTCGATAAAGAAAAGGG,C>T,R>*,stop-gained,NEB
rs1131692333,10,+,102067512,CAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCT,C>T,Q>*,stop-gained,HPS6
rs104886306,X,+,108696349,AGGAGACTTGAGGACACGAATTAGCCGATGTCAAGTGTGCATGAAGAGGAC,C>T,R>*,stop-gained,COL4A5
rs61755771,6,-,42722199,AGGACTGTTCCTGAAGATTGAACTCCGAAAGAGGAGCGATGTGATGAATAA,C>T,R>*,stop-gained,PRPH2
rs772445337,9,+,134812641,TCCCCCTGGCCCCCGAGGACCCTCCGGAGCTCCAGGTGCTGATGGCCCACA,G>A,G>R,missense,COL5A1
rs545954490_1,2,-,178569478,ATGGGGAAAGGTGGATGGTGAAATCCGAGATGCAGCTATAATTGATGTCAC,C>T,R>*,stop-gained,TTN
rs137852959,20,+,3918695,GAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGAT,G>A,G>R,missense,PANK2
rs267608122,2,+,47806651,ATGAATCAGTCACTACGATTATTTCGGTAACTAACTAACTATAATGGAATT,G>A,R>Q,missense,MSH6
rs193922703,12,-,8605391,TACCGCGTCACCTGGTTCACCTCCTGGAGCCCCTGCTACGACTGTGCCCGA,G>A,W>*,stop-gained,AICDA
rs1057524638,17,+,1726523,TGTGCCAGCCTGGTGCAGCTCCAGCCAGGAGTTCGTAGCTGCCCACCGAGC,C>T,Q>*,stop-gained,WDR81
rs1060499769,6,-,152354858,GAGGACCGGGCTTTAGAGTCTCTCCGGCAAGACTGGCAGGCTTACCAGCAC,G>A,R>Q,missense,SYNE1
rs397508926,17,-,43093562,AGAGATAAAGAAAAAAAAGTACAACCAAATGCCAGTCAGGCACAGCAGAAA,C>T,Q>*,stop-gained,BRCA1
rs193922135,X,+,136648279,CGAAACATACAACCAAACTTCTCCCCGATCTGCGGCCACTGGACTGCCCAT,C>T,R>*,stop-gained,CD40LG
rs104893741,3,-,138946068,CTCACCCATGCCCTATGCCTCCTGCCAGATGGCGGCAGCCGCAGCGGCTGC,C>T,Q>*,stop-gained,FOXL2
rs281865009,12,-,101761171,TGGTGTCTTGTCTGACAGAGAAATCCGAACACTGGCTACCAGAATTCACGA,C>T,R>*,stop-gained,GNPTAB
rs137853050,12,-,49185101,GAGGAAGGTGAGTTTTCAGAGGCCCGTGAGGACATGGCTGCCCTTGAGAAG,G>A,R>H,missense,TUBA1A
rs886041226,X,+,22245366,CAATTCCTACAGACCAGAAGCTGCCCGAGAACAAGTCCAAATTGGTGCTCA,C>T,R>*,stop-gained,PHEX
rs587777468,19,-,6495966,GTGCCCTCGCCCAAAGTGTCAGACACGGTGGTGGAGCCCTACAACGCCACG,C>T,T>M,missense,TUBB4A
rs730880631,11,-,47346282,ATCTGAGTACGAGCGCATCGCCTTCCAGTACGGCGTCACTGACCTGCGCGG,C>T,Q>*,stop-gained,MYBPC3
rs397516357,19,-,55151910,CTCATCGCCATCCTCCAGGAAAACCGGGAGGTGGGAGACTGGCGCAAGAAC,G>A,R>Q,missense,TNNI3
rs200965749,2,-,166281804,ATTAATTGATTTTTTTTTTAGGGCACGACCAATCAAATACACAAGAAAAGG,C>T,T>M,missense,SCN9A
rs187063864,5,+,177607309,CTTGCCCACCCTGCACAGGTTCAACCGGGCAGCGCTCATCAACGTGGGCTT,C>T,R>W,missense,B4GALT7
rs587783657,16,+,57663470,CCCGCAGGCTTCCTCATCTTCATCTGGTACTGGTCCATGCGGCTGCAGGCC,G>A,W>*,stop-gained,ADGRG1
rs398122366,8,-,33503763,CGCAGGACCTACGCAAGAAACCTGCCGGCTTTCGTGAACAGGTGAGGCCCT,C>T,P>L,missense,TTI2
rs104894889,X,-,30308660,CCGGAGGAGCGGCCGAGGGCCCCCTGGTGGGACACCTCCTCTGGTGCGCTG,G>A,W>*,stop-gained,NR0B1
rs886039547,5,+,148070377,GAAAAATGGAAAACTGTTCTGTCCCCAGGATAAGAAATTTTTTCAAAGTCT,C>T,Q>*,stop-gained,SPINK5
rs142019584,11,-,19182719,TGCTATGCCAAAAATTTTGGCCCCACGGGTATTGGGTTTGGAGGCCTTACA,C>T,T>M,missense,CSRP3
rs1057520719,X,+,154773227,ATCATGGAGAGAGACACTTACCCTCGGAAGTGGGGTTTAGGTCCAAAGGTA,G>A,R>Q,missense,DKC1
rs119103267,1,+,12009641,TCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGC,C>T,R>W,missense,MFN2
rs751459058,6,+,5613185,TTTTGTTAGCCTCTTAGCAAATATCCGGCTGTGATCAATGATATTTCATTC,C>T,P>L,missense,FARS2
rs121918428,19,-,49061381,GCCTGCGTCTGCACACTCCTCAGCCGGACTGGCCGGGCCTGAGACCCATGC,G>A,R>Q,missense,NTF4
rs72650700_1,16,-,16190247,CTTTCTGGACAGAGTCCTGGGCATCCGAGGCCAGGAGCTGGGCGCCTTGCG,C>T,R>*,stop-gained,ABCC6
rs879192998,8,-,144511535,CGTAGGAAGCCCCTGCTACCCGGCCCAGGTGTACGGGCAGGACCGACGCTT,C>T,Q>*,stop-gained,RECQL4
rs797045277,6,+,157198907,AGCCCGGCCTGTACCCACAGCAGCCGGTGAGTTGGCAAGTGGGCGTGGGGT,G>A,P>P,synonymous-codon,ARID1B
rs761917087,17,-,6704000,CTCCTGTCCATGTGGATCAGTAACACGGCAACCACGGCCATGATGGTGCCC,C>T,T>M,missense,SLC13A5
rs148865119,21,-,43072048,CCCCTGTGGATCCGGCCCGATGCTCCGAGCAGGTGCACCTGGCAGCTGGGC,C>T,P>L,missense,CBS
rs1805008,16,+,89919736,CTACCACAGCATCGTGACCCTGCCGCGGGCGCGGCGAGCCGTTGCGGCCAT,C>T,R>W,missense,MC1R
rs773658037,19,+,11113338,GAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCCTCATCCCC,G>A,R>Q,missense,LDLR
rs193922415,X,+,48683890,CCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAA,C>T,R>*,stop-gained,WAS
rs527236057,4,-,47936861,GGTATTGAGCGATGGCAGCTACTTCGGTGAGATCAGCATTCTTAACATTAA,G>A,G>S,missense,CNGA1
rs104894335,12,+,49954317,CTCTGTGGCCCTGGGCCACCTCCTTGGGGTAGGTCATGGCCATGGGTTCCA,G>A,G>R,missense,AQP2
rs770873593,6,+,7580388,CCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGA,C>T,R>*,stop-gained,DSP
rs138686233,1,-,176945951,CAACCATTCCAAGGAAGTGGCTGCCGGACAGGTGCTGAAAGGAACATTCAG,G>A,G>R,missense,ASTN1
rs763672163_1,16,-,1773026,GCAACTGAACAGGCCGCGCGACTCCCAGCTCTACGCGGTGGACTACGAGAC,C>T,Q>*,stop-gained,MRPS34
rs121907996,13,-,51946438,ATCTCCCAGACAGAGGTGATCATCCGGTTTGCTTTCCAGACGTCCATCACG,G>A,R>Q,missense,ATP7B
rs188985665,2,-,178014388,AAAATCATTATTGTGCATGCCTATCCGAAGCAGTGATGGTGAGATTATTGG,C>T,R>*,stop-gained,PDE11A
rs760378316,7,-,99203201,GAGGATGGCGGTCAGTCTGGAGCTCCGAAAGGCCAAGAAAGATGAACAGAC,C>T,R>*,stop-gained,KPNA7
rs398123102,X,+,153740156,GGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCACG,G>A,R>Q,missense,ABCD1
rs1057516339,9,+,130464159,GCTCAGCTGCTACTCACTGGCCCCCCAGATAAAGGTAGGATGTGGCTCCTC,C>T,Q>*,stop-gained,ASS1
rs137854613_1,3,-,38551505,GTACTTCTTCTCCCCGACGCTCTTCCGAGTCATCCGCCTGGCCCGAATAGG,C>T,R>*,stop-gained,SCN5A
rs1060500629,11,+,2587616,GCCGAGAACCCCGACTCCTCCACCTGGAAGATCTACATCCGGAAGGCCCCC,G>A,W>*,stop-gained,KCNQ1
rs754137452_1,2,+,15945819,CCCAAAGGCTAAGAGCTTGAGCCCCCGAAACTCTGACTCGGAGGACAGTGA,C>T,R>*,stop-gained,MYCN
rs1286331975,5,+,177210272,TTCAAAAGTGAAGCTCTGCTATATTGGAGCAGGTGATGAGGAAAAGCGAAG,G>A,G>R,missense,NSD1
rs387907299_1,3,-,43080099,TTGCCGGAACCCCGAGTGGCTCTTCCGAATCTACCAGGACACCAAGGTGGA,C>T,R>*,stop-gained,POMGNT2
rs121918519,19,+,11448604,CGGGGAGTTTGCTTACCTGTACAGCCAGTGCTACGAGCTCACCACCAACGA,C>T,Q>*,stop-gained,PRKCSH
rs773404494_1,10,-,53938830,CCTGGAAGTGGTCCTTGCCAATCTCCGAGTTCCTTCAAAAAGTAAGTTATA,C>T,R>*,stop-gained,PCDH15
rs867410737,19,+,1242559,GTGCCCACGCTGCAGGTCCTGCGGCCGGGGCTGGTCGTGGTGCATGCAGAG,C>T,P>L,missense,ATP5F1D
rs61751296,12,-,5969337,CCCCTGCCTCATCAATGAGTGTGTCCGAGTGAAGGAGGAGGTCTTTATACA,C>T,R>*,stop-gained,VWF
rs121918593,19,+,38499993,CTATGCCGCCTTGATCGACCTGCTCGGACGCTGTGCACCAGAGATGCATGT,G>A,G>R,missense,RYR1
rs796051896,1,+,75761188,AGTTGAACTAGCTAGAATGAGTTACCAGAGAGCAGCTTGGGAGGTTGATTC,C>T,Q>*,stop-gained,ACADM
rs28939672,10,-,13288512,GAAGACGTCCCGTCACCCCCTGCACCAGGACCTGCACTATTTCCCCTTCAG,C>T,Q>*,stop-gained,PHYH
rs1064797134,1,-,215878800,AGTGAATCATATGTTGTGATTTCTTGGCAACCACCATCCAAGCCAAATGGA,G>A,W>*,stop-gained,USH2A
rs868073099_1,9,-,108931068,AGGGAATCCTCAGTGCTTCTCTCTCCGAACTGAACAGGGGACGGTGCTCAT,C>T,R>*,stop-gained,ELP1
rs199473428,7,-,150951643,GCAGCCACACATGGACTCACGCATCGGCTGGCTGCACAACCTGGGCGACCA,G>A,G>S,missense,KCNH2
rs201201843,19,+,39416866,TGCCCCCAGCTCCCTGGCCCTGCTCCGGGAGCTGTCGTTGTCTCCGCCAGC,C>T,R>W,missense,PLEKHG2
rs397514979,16,+,2081607,GCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTC,G>A,W>*,stop-gained,TSC2
rs72551314,2,+,218812250,AGGACACCACTGGTACCAGCTGCGCCAGGCTCTGAACCAGCGGTTGCTGAA,C>T,Q>*,stop-gained,CYP27A1
rs28935469,X,-,154367844,GGCGCCCTGGTGGACAGCTGTGCCCCGGGTGAGGGGGCGCAGAGGCAGGAG,C>T,P>L,missense,FLNA
rs387906705,X,-,41561588,AATCAATGGCATCAGTGTGGCTAACCAAACAGTGGAACAACTGCAAAAAAT,C>T,Q>*,stop-gained,CASK
rs149905705,3,+,155144383,GGTCGAGGATTTGATTGCACAGATCCGAGAAGTTTTTATTCAGACTTTAGA,C>T,R>*,stop-gained,MME
rs750880909,10,+,71791167,CGTGAGGTCAGGTGTCATCATTGACCGGGAGGCATTCTCGCCACCCATCCT,C>T,R>W,missense,CDH23
rs386833934,19,-,35851339,GAGGCCTGTGACCTCAGCGATGACGCGGAGTATGAGTGCCAGGTCGGCCGC,C>T,A>V,missense,NPHS1
rs1373388852,16,+,89532504,TGTGCGGAGCCTCTTTAAGGAAGCCCGAGCCCGGGCCCCCTGCATCGTCTA,C>T,R>*,stop-gained,SPG7
rs121913314,20,+,37403359,CTTCACGTCCACCGAGCCCCAGTACCAGCCCGGGGAGAACCTCTAGGCACA,C>T,Q>*,stop-gained,SRC
rs397515417,X,-,72462077,ACAGGAGGCTATAACCTTGCCAACACGGCTCGATGCTGGACATACTTGACC,C>T,T>M,missense,HDAC8
rs775085213,1,+,110174012,GGGGCTGTATTATAATGTGATCATCGGGTGGAGCATCTTCTATTTCTTCAA,G>A,G>R,missense,SLC6A17
rs1131691326,16,-,3729447,CTGCAGCAGGCCCAGCTCATGCGCCGGCGGATGGCCACCATGAACACCCGC,G>A,R>Q,missense,CREBBP
rs747522386,3,-,48586166,CTTGGCGCCGGGTATGGACTCTGTCCAGACCTTCTTCGCCGTGGATGATGG,C>T,Q>*,stop-gained,COL7A1
rs142968179,1,+,9982480,TGAATCGGATGTGCTGTGGAAACACCGGAGCAACATTCACGTGGTGAATGA,C>T,R>W,missense,NMNAT1
rs150591260,5,+,71641018,TTCCTCTTAGGTCATTGCTAGAATCGTGGATGGAAGCAGATTCACTGAGTT,G>A,V>M,missense,MCCC2
rs576928842_2,16,+,15691278,CGTGCCGTCCACGCCCATTGCTCACCGAGGACCCAGCTCAAGTTTAAACAC,C>T,R>*,stop-gained,NDE1
rs748529285_1,1,-,197088357,ACTATTGGAGCTTTTGCAGATATACCGAGAAAAGCCTGGTAATAAAGTTGC,C>T,R>*,stop-gained,ASPM
rs587777132,2,-,201728592,TCGACTGCTGTGTGAGAGTAGTAACCGAGCCCTGTCTCTGCAGCATGCTGG,C>T,R>*,stop-gained,ALS2
rs367682612,1,+,108904155,GGATAAAAGTGGTGAACTAACAGCACGACTTAATCTCTCAGACCTTCAAAT,C>T,R>*,stop-gained,GPSM2
rs587777708,10,+,100749869,GGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGT,G>A,R>Q,missense,PAX2
rs45477491,16,+,2080209,TGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCC,C>T,Q>*,stop-gained,TSC2
rs80356680,1,-,209650023,GCTTGTTGGGAGGACCCGGTTTCTCCGAGCTTCATCTACCTGTGGACTGAC,C>T,R>*,stop-gained,LAMB3
rs797044824,19,+,7526869,TGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGA,C>T,R>*,stop-gained,MCOLN1
rs398122513,19,+,48955799,GCTGAGCGAGTGTCTCAAGCGCATCGGGGACGAACTGGACAGTAACATGGA,G>A,G>R,missense,BAX
rs121908020,10,-,125788993,TCTGTCTTTATAGTTTGCAGCCATCGGCCCCACTACGGCTCGCGCGCTGGC,G>A,G>S,missense,UROS
rs387907332,X,-,49075636,AGGCACTGTAGTGGCCTCAGCCTCCCAGAAGGGTACCCTTATTCGCCTCTT,C>T,Q>*,stop-gained,WDR45
rs1057519852,9,-,21971030,GCGCGGCTGGACGTGCGCGATGCCTGGGGCCGTCTGCCCGTGGACCTGGCT,G>A,W>*,stop-gained,CDKN2A
rs189694750,X,-,50635637,GTGTGTGCAGTGGTGTCCACTCTCCCGGCATTGCAGCACCGAGAAAAGCAG,C>T,R>W,missense,SHROOM4
rs121908529,2,+,240871433,CGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAGGTGAGCCTG,G>A,G>R,missense,AGXT
rs80358631,13,+,32338226,TGTAAGTGAAAAAAATAATAAATGCCAACTGATATTACAAAATAATATTGA,C>T,Q>*,stop-gained,BRCA2
rs121912854,3,-,48592915,AGCGGATGACTCGACCTCTGCTCCACGAGACCTGGTGCTGTCTGAGCCAAG,C>T,R>*,stop-gained,COL7A1
rs727505376,8,-,38414279,TCCGCCCATTTGCAGGTGGTCTTTCGGGGTGCTCCTGTGGGAGATCTTCAC,G>A,G>R,missense,FGFR1
rs541587321,12,+,120739194,GGAGGCCGCGACCGCCATCAGCCACCAGGTGAGTGTCCACAGTGAGCTCTG,C>T,Q>*,stop-gained,ACADS
rs587784429,10,+,110582082,TACAATCAGGAACTTAACGAGACTCGTGCCAAACTTGATGAGGTAAAATAT,G>A,R>H,missense,SMC3
rs118203909,1,-,169541609,GCTCAGTGAAATGCTTGAGTATGACCGAAGTCACAAGTCCTTCCCCACAGA,C>T,R>*,stop-gained,F5
rs104894396,13,-,20189511,CACTCCACCAGCATTGGAAAGATCTGGCTCACCGTCCTCTTCATTTTTCGC,G>A,W>*,stop-gained,GJB2
rs140630_1,15,-,48465580,CGGCTACTACCTGAATGAAGATACACGAGTGTGTGATGGTAAATGGTCCTG,C>T,R>*,stop-gained,FBN1
rs587776977,22,+,31802739,GCACTACATCAACCGCAACTTTGACCGAACTGGGCAGATGTCAGTGGTGAT,C>T,R>*,stop-gained,DEPDC5
rs370596113_2,1,+,45508847,CCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGAT,C>T,R>*,stop-gained,MMACHC
rs182135982_0,3,-,132699988,AAGCTTCTGGAAGAATTTCCACGTTGGCTGGAAAAACTCTCTGCTCGTCAT,G>A,W>*,stop-gained,NPHP3
rs104894267,11,-,64804789,GCGGCAGAAGGTGCGCATAGTGAGCCGAGAGGCCGAGGCGGCCGAGGCCGA,C>T,R>*,stop-gained,MEN1
rs376897125,14,-,23430601,ATTCATCTCCCAAGGAGAGACCACCGTGGCCTCCATTGATGACGCTGAGGA,G>A,V>M,missense,MYH7
rs587783081,X,+,18581900,TATCTTGACACTCCAGATATAAAACCAGAAAATCTCTTAATCAGCCACAAT,C>T,P>L,missense,CDKL5
rs122453121,X,-,133699902,AGAACATGAAGAAACCTTATCCAGCCGAAGAAGGTGAGAGGTTTCTTTTTT,C>T,R>*,stop-gained,GPC3
rs759581558,16,+,81356957,GCGATGCTGGCCAACTTCAAACCCCGGGGCTACTCTGAGTGCATCGTGACT,G>A,R>Q,missense,GAN
rs80356520_1,3,+,58136126,CATCCCACTTTCTCCTTATCGCATCCGAGCCACACAGACGGGTGATGCCAG,C>T,R>*,stop-gained,FLNB
rs793888509,X,+,45053832,TTTTTTAAATCATTTACTGTAGGTTGGATGCATCACACTGTAGATCTCCTG,G>A,W>*,stop-gained,KDM6A
rs754386565,1,+,53211088,TGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGG,C>T,Q>*,stop-gained,CPT2
rs886041983,1,-,244863788,GCCGGCGACGCAGCAGCAACAGCCCCAACAGCAGCGCGGGGCCGCCAAGGA,C>T,Q>*,stop-gained,HNRNPU
rs111033283,11,+,77156909,CCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAA,G>A,G>R,missense,MYO7A
rs878853350,6,-,64307024,ATAGAAGTTATAGAAATAAATAACTGGAGATCTTTCATTCCATCCAAGGCA,G>A,W>*,stop-gained,EYS
rs146766138,11,+,68033140,GGGCATGACCCTGAGCTACCTGTTCCGGGAACCGGCCACCATCAACTACCC,C>T,R>W,missense,NDUFS8
rs1085307797,X,+,154420094,CATCATCCTGCCCCTGTGGCATGTCGGTGAGCCTGGGGACGGGGACAGAGA,G>A,G>R,missense,TAZ
rs121964965,21,-,43066279,TGAGCGCGACGGGACGCTGAAGCCCGGGGACACGATTATCGAGCCGACATC,G>A,G>R,missense,CBS
rs72650701,16,-,16182497,TTCGGGCAGGAGCTGGACCCACCCTGGCTGGAGAGAGTACTAGAAGCCTGT,G>A,W>*,stop-gained,ABCC6
rs121913575,6,+,129353285,CCCTGTCACAGGATTCTGCACGTGCCGACCTGGAGCCACGGGAAGGAAGTG,C>T,R>*,stop-gained,LAMA2
rs104893630,2,+,73946776,GGATATGATGTACCGGGAGCCAGCACGATGGTCCTACACATTCCAGACATT,C>T,R>*,stop-gained,DGUOK
rs879254056,9,+,127502777,TGCTCCCGCTCTCCCTCCCCAGGCCCAGATGATCTTCCTCAACTGTGGCCA,C>T,Q>*,stop-gained,LRSAM1
rs748507111,2,+,206771265,ATGAAGTGTATTGGAAAAGATGCACCGATTGCTCTTAAGAGGAAACTGGAG,C>T,P>L,missense,FASTKD2
rs118203993,12,+,121627018,CCGCGCCAAGCTTAAAGCCTCCAGCCGGACCTCGGCTCTGCTCTCCGGCTT,C>T,R>W,missense,ORAI1
rs122445106,X,-,77633660,TTGTGTGACAAACTGGATTTCAGCACGGCGTTAGTGGTTTGTCCTCTTAAT,C>T,T>M,missense,ATRX
rs376152742,13,-,101107503,CAGAAACTTTTGCCGGGTGGTGGTCCGAGCACGCTTCAACGCGTAAGTACA,C>T,R>*,stop-gained,NALCN
rs879254021,14,+,102040629,GGCATCTGGCTGGACAGCAGCTCCCCGGAGCAGACTGTGCCCTACCTCTGG,C>T,P>L,missense,DYNC1H1
rs200679026,9,-,94605552,GGATAATTCAGCTCCTTATGGGGCCCGGTATGTGGGCTCCATGGTGGCTGA,C>T,R>W,missense,FBP1
rs137852210,X,-,132100704,TTGTTTTGTTTAGCAAAAGTCATCCGGGAAGGCATTGTTTAACCTGAGTTG,G>A,G>R,missense,FRMD7
rs527236134,2,+,111929428,CTCAATCAGTGTACCTAATATATACCAGGACACCACAATTTCTTGGTGGAA,C>T,Q>*,stop-gained,MERTK
rs933746831,8,+,99875430,TTTTGGATCCTAGGTAGATGGAGTCCGAGAGAGACTGTCAGAGCAACAGTA,C>T,R>*,stop-gained,VPS13B
rs104894119,9,-,124500685,CGCGCTGACCGTATGAGGGGTGGCCGGAACAAGTTTGGGCCGATGTACAAG,G>A,R>Q,missense,NR5A1
rs74315289,1,+,54999325,TGCCATGGGCAGCGTCATGGTGATCGGGGGCATCATCTGGAGCATGTGCCA,G>A,G>R,missense,BSND
rs145766983_1,13,-,23336603,AACAGAAGAGAATTTTCAGCTTTGCCGACGAATAATCAGTGAAGGAATATG,C>T,R>*,stop-gained,SACS
rs1131691924,5,+,90791194,TAGATCCATCCAAATTAACATAACCCGGCTTGCTGGAACATTTGGAGATGT,C>T,R>W,missense,ADGRV1
rs121917847,8,+,109087561,ACTGAACCAAACACAGCTTCAGCCACGAGCAGTGGTGGCCTTAGAATACCA,C>T,R>*,stop-gained,TRHR
rs886041843,12,-,47996613,GGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAA,C>T,Q>*,stop-gained,COL2A1
rs398124268_0,7,+,147903619,AAAGCCAACGAGAAGCACTACTACTGGGGAGGCTCTGGGCCTGGAATCCAG,G>A,W>*,stop-gained,CNTNAP2
rs119479066,2,-,43826429,CCTGGTGGAACTGGCTCGCAGGAACCGAATTGTGGTTCTCACCATTCACCA,C>T,R>*,stop-gained,ABCG5
rs121917783,9,-,95150056,TCCCGAGCGAGTGGCGTCCCTGTCACGAGTTTGTGTCCCACTTATTACCCT,C>T,R>*,stop-gained,FANCC
rs1131691601,3,-,48580598,TGAAAAGGGAGACCAGGGAGATCCTGGAGAGGATGGACGAAATGTGAGTCC,G>A,G>R,missense,COL7A1
rs199469707,2,-,201640915,ATTTTTTCCGCCACAGCGTCCTCCACGAGCTCTTCCACCTGTGCCAAGGTA,C>T,R>*,stop-gained,TMEM237
rs587784543,19,+,36083171,TGGGACACCCATGGACGTGAAAGCCGGGGTGCGGGTCATGCAGGTCAGTCC,G>A,G>R,missense,WDR62
rs200583827_1,6,+,73482103,TCGCAAGCCTCCCTTTGTGGTTAGCCGAACAGAAGGTTACATAGGAGTCTT,C>T,R>*,stop-gained,MTO1
rs398124156,X,-,54465725,CAACACCTGGACAGAGCGCTCCACCCAGTTTAAAGTCATCATCCATGAGGT,C>T,Q>*,stop-gained,FGD1
rs768366199,14,-,67777597,CTTCTATGGACAACTGACTGCTGTCCGACACCGTGAAATCCAGGCGCTGTA,C>T,R>*,stop-gained,ZFYVE26
rs898043081,19,+,12891929,CAGGGACACCTTCCGCACCTACTGCCAGGAGAGACTCATGCCTCGCATCCT,C>T,Q>*,stop-gained,GCDH
rs886041300,1,-,210920032,CTGTTCAGCTCTCTAAAAGTTGTCCGGCTGCTCCGTCTTGGGCGAGTGGCC,G>A,R>Q,missense,KCNH1
rs796053040,2,-,165991840,GACTTTGAGATGTTCTATGAGGTTTGGGAGAAGTTTGATCCCGATGCAACT,G>A,W>*,stop-gained,SCN1A
rs759174628,12,+,80339228,AATCATAGACATTCATTTTGGCTTCCGATTTAACTTGTCATCCTACACAGA,C>T,R>*,stop-gained,OTOGL
rs757208121,4,+,15527564,CTTCACTCATCATCCCTGTTTTAGCCGAGAGCATGTTTTGGCAGCCAAGCT,C>T,R>*,stop-gained,CC2D2A
rs786202500,2,-,214781378,TGTGAGTAAAGCTTCAGTGCAAACCCAGCCTGCAATAAAAAAAGATGCAAG,C>T,Q>*,stop-gained,BARD1
rs119472028_1,15,-,45104176,GGATGGCAATGGCTACCTGTCCTTCCGAGAGTTCCTGGACATCCTGGTGGT,C>T,R>*,stop-gained,DUOX2
rs771028960,20,+,46725728,AGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGGTG,G>A,R>Q,missense,SLC2A10
rs1057517899,4,+,5711552,CGCGGGCCGCCAGCGCACGCGACACCAGGTGGGTCGGCCGAGCAGACAGCG,C>T,Q>*,stop-gained,EVC
rs745973997,9,+,2646435,GATTGGGTGTACAAGACCATCTACTGGACTGATGCGGCTTCTAAGACTATT,G>A,W>*,stop-gained,VLDLR
rs587783490,16,-,3740454,CCCTGAAGCCGGGGAGGTTTTTGTCCGAGTGGTGGCCAGCTCAGACAAGAC,C>T,R>*,stop-gained,CREBBP
rs74315510,22,-,50524255,AGAGACAGGTGGGCAGGGCCAGCCCCAGGGCCCTGGGCTTCGAACCCGGCT,C>T,Q>*,stop-gained,SCO2
rs201307156,1,+,183243203,GGTCTTACTGGAGCAGAAGCTTTCCCGAGCCAAGACCCAGATCAACAGCCA,C>T,R>*,stop-gained,LAMC2
rs199476115,M,+,5244,CCTAGGAGGCCTGCCCCCGCTAACCGGCTTTTTGCCCAAATGGGCCATTAT,G>A,G>S,missense,ND2
rs1131692306,11,-,31800747,ATGTTGAACGGGCAGACCGGAAGCTGGGGCACCCGCCCTGGTTGGTATCCG,G>A,W>*,stop-gained,PAX6
rs202102042,1,-,11847114,AGCGGACTGGGCTGTAACAGCTTCCGGGTAAGAGGAACTGGGGATGGAAAT,G>A,R>Q,missense,NPPA
rs104893950_1,6,-,145627691,GTGCTGTGCTTTCCCCACCGCAGGCCGAGTACAGATGCTGCCCCAGGCGGT,C>T,R>*,stop-gained,EPM2A
rs886040610,13,+,32340155,GAGTGAAGAAATTTTACAACATAACCAAAATATGTCTGGATTGGAGAAAGT,C>T,Q>*,stop-gained,BRCA2
rs797045282,6,+,157206545,AAAGAACAACCTGTTTGTTGTTGACCGATCTGACAAGTTGGGGCGTGTGCA,C>T,R>*,stop-gained,ARID1B
rs749509661,6,-,43038323,GAATCTTCTGAACTGCCTCATCGTCCGAATCCTCAAGGCCCATGGAGATGA,C>T,R>*,stop-gained,CUL7
rs864622636,9,-,21974680,GAATAGTTACGGTCGGAGGCCGATCCAGGTGGGTAGAGGGTCTGCAGCGGG,C>T,Q>*,stop-gained,CDKN2A
rs200712760,1,-,215888482,GGTAGAAGTTACCACAAGACCCTCACGACCTGCTGGGGTGCAGCCACCTGT,C>T,R>*,stop-gained,USH2A
rs1456983114,22,+,30614483,TCTGTATGCTGTGGAACCTTTCCACCAGGGCCACCATTCTGTGGGTGAGTA,C>T,Q>*,stop-gained,TCN2
rs121913576_1,6,+,129464444,TGCTCTTCTGATGTATCTTGCCACACGAGACCTGGTAAAGATCATATGCAT,C>T,R>*,stop-gained,LAMA2
rs386833808_1,14,-,22773945,AGAACATAAGCGACCGCTTTACCTCCGAAGGATCGTGGGTAAGCCGTGCAT,C>T,R>*,stop-gained,SLC7A7
rs80338844,11,+,112088939,AGTGTTTTGCTCCTGGGTCTGCTTCCGGCTGCTTATTTGAATCCTTGCTCT,C>T,P>L,missense,SDHD
rs782246658_1,X,-,53195918,CTGGATTGCTGATGTTGATGAGATCCAAGTGAGGACCCTGCCACTCCCACC,C>T,Q>*,stop-gained,KDM5C
rs138498898,12,-,47974258,ATGACCTTCCTACGCCTGCTGTCCACGGAAGGCTCCCAGAACATCACCTAC,C>T,T>M,missense,COL2A1
rs767774362,12,+,120739401,GATCTACGAGGGCACCAGCGAAATCCAGCGGCTGGTGATCGCCGGGCATCT,C>T,Q>*,stop-gained,ACADS
rs387907267,11,-,47335120,GCCCACGGGGGCCCGGCTGCTTTTCCGAGTGCGGGCACACAATATGGCAGG,C>T,R>*,stop-gained,MYBPC3
rs796052811,X,-,100407567,GTGCTGGACACCAATGACAATCCGCCGGTCATCAACCTGCTGTCAGTCAAC,C>T,P>L,missense,PCDH19
rs72558455,X,+,38408993,AGAAGAGGAGAAGAAAAAGCGGCTCCAGGCTTTCCAAGGTTACCAGGTTAC,C>T,Q>*,stop-gained,OTC
rs606231299_1,1,-,112917469,TCTGGCTTTTGTTGACATGGTAGCCCGACCATCTATGGGACTTGTAGCCAA,C>T,R>*,stop-gained,SLC16A1
rs281874675,X,+,108597515,AGCTCCAGGGCTTCCTGGTTTACCTGGCACTCCTGGACAGGATGGATTGCC,G>A,G>S,missense,COL4A5
rs80359082,13,+,32370447,GCCTGCTCGCTGGTATACCAAACTTGGATTCTTTCCTGACCCTAGACCTTT,G>A,G>R,missense,BRCA2
rs121917732,5,-,113064110,ATGCTCAAGCGAGCTCATGACTGCCGGAAGACAGCTGAGAACGCTGCCAAG,G>A,R>Q,missense,MCC
rs886044708,16,-,51141495,AGCTCTGCAGCAGCAGCAGATCCACCAGCTGCAATTGATCGAACAGATTCG,C>T,Q>*,stop-gained,SALL1
rs398123105,X,+,153740618,TCCCTGCGTGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAAGG,C>T,P>L,missense,ABCD1
rs121909639,8,-,38415899,GGTGTCCTGCGCCTACCAGGTGGCCCGAGGCATGGAGTATCTGGCCTCCAA,C>T,R>*,stop-gained,FGFR1
rs1057517944,12,+,51920816,GTGCTGGTACCCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAA,C>T,R>*,stop-gained,ACVRL1
rs376303676,1,+,162759881,GACCCATGAATACCACGTGTGGCCCGGCTATGACTATGTGGGCTGGCGGAA,G>A,G>S,missense,DDR2
rs886041637,3,+,122282134,CCAGGTGCCCTTCTCCAACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAA,C>T,R>*,stop-gained,CASR
rs1243779049,2,-,26204087,AGATGCCACCCTCACTGCGCTAGACCGAGGACAGCAACAAGTGTTCAAAGG,C>T,R>*,stop-gained,HADHA
rs193302848,16,+,1361760,TCTTCCAGGACCCGTGCATCTCTTCCGACTCTCGGGCAAGTGCTTCAGCCT,C>T,R>*,stop-gained,GNPTG
rs876659625,1,-,45333138,CTCAGAGGTCATGCTGCAGCAGACCCAGGTTGCCACTGTGATCAACTACTA,C>T,Q>*,stop-gained,MUTYH
rs587782993,5,+,140114737,GCCTGGCCTGGGCTCCACGCAGGGCCAGACCATTGCGCTGCCCGCGCAGGG,C>T,Q>*,stop-gained,PURA
rs727505284,2,-,178565416,TAAAATAGAAATTCCAGTTATAGGCCGACCAAGACCTAACATTTCTTGGGT,C>T,R>*,stop-gained,TTN
rs104894460,14,+,20472468,CTACGGTGAAATCCCCAACTTTCCCCGAAGTACAGGTACTGGCAAGGGAAA,C>T,R>*,stop-gained,PNP
rs137852648,7,+,30612107,ACTTAAATTTATAGGTACTTGAGACCAGAAACTGCACAGGGGATTTTCTTG,C>T,P>L,missense,GARS
rs747806672,2,-,108897110,GTGGCGCCACCTCGCCGAGAGCTTCGGCCTGAAGAGGGATGAGATTGGGGG,G>A,G>S,missense,EDAR
rs747237113,16,+,2058784,GGACGCGCCCCTGCTGAGAGGAGCCGTGTTTTTTGTGGGCATGGCTCTCTG,G>A,V>M,missense,TSC2
rs111033628,X,+,124365795,TTACATTTATACATACCGAGTGTCCCAGACAGAAACAGGTTCTTGGAGTGC,C>T,Q>*,stop-gained,SH2D1A
rs587782446,16,-,23635288,AACAACACGAAGCATGTCCAATTGCCAGAGGAAAGTAGCCGTGGAGGCTGT,C>T,Q>*,stop-gained,PALB2
rs587777483,1,+,119727080,AGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTA,G>A,R>Q,missense,PHGDH
rs886041677,3,+,46999363,TGAGCGGCTACCTGAGCGGAGCCGCCAGCGCCTCCGGCTGCGGGAGTGTGG,C>T,Q>*,stop-gained,NBEAL2
rs765799472,4,+,145639203,AAAAGGCCTTTTAAGAGCACCTTTCCGATGTTACCACTTCATCTTTCACTC,C>T,R>*,stop-gained,MMAA
rs587779813,11,+,108249102,CAGAATGATTTTGATCTTGTGCCTTGGTAAAGTGTTACCATTTTCTCATTC,G>A,W>*,stop-gained,ATM
rs111888148,19,+,38455463,CTTCCCCCCTCAGCTTCTCTAATCCGTGGCAATCGTAGCAACTGTGCCCTC,G>A,R>H,missense,RYR1
rs372328960,12,-,55697500,CTCCCATGAGGTCTCTATTGCTCCACGAAGCATCGACCTGGAGCAGCCCAA,C>T,R>*,stop-gained,ITGA7
rs104894655,17,+,39665762,CACCCAGAGACATGAGACCTACCACCAGCAGGGGCAGTGCCAGGTGCTGGT,C>T,Q>*,stop-gained,TCAP
rs753237335,14,-,20447274,TTTCTTCTGTTTTTCCACAGGTATCGGACAGATGAAGTAGAGGTGACCTGG,G>A,R>Q,missense,OSGEP
rs119468005,1,+,226965719,GAAGGTGCCTGTGACGAGGATTGGCCGGCTGGCCAACTTCGGAGGTAAGGT,C>T,R>W,missense,COQ8A
rs730882213,19,+,1912477,CCTGGGGCAACCCTTCCTGGTGCCCGTGCCCGCCCGGCCGCCTCTGACCAG,G>A,V>M,missense,ADAT3
rs28936672,14,-,36517771,CTGACGCCCACGCAGGTCAAGATCTGGTTCCAGAACCACCGCTACAAAATG,G>A,W>*,stop-gained,NKX2-1
rs137852873,19,+,41422310,TGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCAC,C>T,R>W,missense,BCKDHA
rs386833945,19,-,35850987,AACTGTGTGTCTGGGGACGCGAAGCCAGCACCTGACATCACCATTCTCCTG,C>T,P>L,missense,NPHS1
rs184256941,11,+,103156716,GTGTATTTGGAACCCATTTTCGGCCGTGGAGCATTGCCAAAAGAACAGACA,G>A,R>H,missense,DYNC2H1
rs1047420796,1,-,39847258,AAACAAGTAACTAAGAGATATGCCCGGAAACAAAACCGATGGGTTAAAAAC,G>A,R>Q,missense,TRIT1
rs199472855,7,-,150974719,CGCAAAGTGGAAATCGCCTTCTACCGGAAAGATGGTAGGAGCGGGCCGGGG,G>A,R>Q,missense,KCNH2
rs1135401800,X,-,53198524,GAGTGAGGCAGAGGCTTGCGTGTCCCGAGCTCTGGGACTGGTCAGCGGCCA,C>T,R>*,stop-gained,KDM5C
rs199564797,1,+,25809150,GACTTCTACTACACTGTGATGTTCCGGTGAGTGGGCCACACTGGCTGGCCT,G>A,R>Q,missense,SELENON
rs1057517793,X,+,22114464,GATCAATTATCTCCCACAGGTAATCCAGGGGACCACAACTTTGCTGCCTCA,C>T,Q>*,stop-gained,PHEX
rs72653793,16,-,16177623,CTTCTACCCCTTCCCTGCCCAGACACGGATTCTCGTGACGCACGCACTCCA,C>T,R>W,missense,ABCC6
rs121909551,1,-,173914743,GATGAGGGCTCAGAACAGAAGATCCCGGAGGCCACCAACCGGCGTGTCTGG,C>T,P>L,missense,SERPINC1
rs369692236,2,-,240775890,GAAGAAGACAGATTTCATTCCGTACCGAGATTCCGTGTTGACCTGGCTCCT,C>T,R>*,stop-gained,KIF1A
rs587783592,X,-,111330943,AGCCAAGAGCCCTGGTCCTATGCGCCGAAGCAAGTCTCCAGCTGACTCAGG,C>T,R>*,stop-gained,DCX
rs775036118,11,+,108307914,TTTGTCAGAGTCAGAGCACTTTTTCCGATGCTGTTTGGATAAAAAATCACA,C>T,R>*,stop-gained,ATM
rs142566193,3,-,48566303,CTTCTGCTCCCAGGAGGATGACATCCGGGGCTTTGTGCGCCAAGAGATGAG,C>T,R>W,missense,COL7A1
rs104894629,17,+,47946681,AGGTCAAACCAACCGCCTGCATGACCGGATAGTCTTTCGGCGGGGCCTACC,C>T,R>W,missense,PNPO
rs121908170,1,-,110064595,CCTGCGCACAGACCTGACTGAGGCCCGGGTACAGGTGAGGGCACTGCAAGG,C>T,R>W,missense,ALX3
rs150634562,21,+,44291116,CCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCAT,G>A,V>M,missense,AIRE
rs121908483,19,-,32859939,AAACCTGCCTTTGGCCATTATCATCGGGATCCCCCTGGTGACGGCGTGCTA,G>A,G>R,missense,SLC7A9
rs137852771,2,-,26194581,TGCGCCCATGATGTCTGAAGTCATCCGAATCCTCCAGGTTGGTATTGCTCT,C>T,R>*,stop-gained,HADHA
rs199939108,20,+,18543155,GCCCGATGTGCTCCGGTGGCTGGACCGACAACTCATCCGACTGGTAAATTG,C>T,R>*,stop-gained,SEC23B
rs121917712,7,-,41972567,GCGTTACACAGACCCAAGCTCCCTCCGGAAACATGTGAAGACAGTGCATGG,C>T,R>W,missense,GLI3
rs104894178,10,-,13283695,TGGTCAGAATAAAACCCAGGGATTCCGGAAGGTAAGCATTCACATTGCTGC,C>T,R>W,missense,PHYH
rs145192716,1,-,29200574,TGTTTTCCAGGACATGCCCCAGCCACGGCTTGCTCTCAACTGTGTTGGTGG,C>T,R>W,missense,MECR
rs904672363,17,+,42543217,TCCTTCCAGGGCCAGCCCTTCATCTGGTGCATGCTGCACAACTTTGGGGGA,G>A,W>*,stop-gained,NAGLU
rs202138550,17,-,8229943,ATCTCACAATGTTTATTGTTGTTTCCGGTCATCCACTTATGTGCAGGTCCT,C>T,R>W,missense,CTC1
rs60407644,17,+,50167487,GTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGGCACCCAGG,G>A,A>T,missense,SGCA
rs137853305,9,-,35685529,CAGAGGAATGAAGGTCATCGAAAACCGGGCCATGAAGGATGAGGAGAAGAT,C>T,R>W,missense,TPM2
rs869312712,6,+,157084866,TGTTGGCTCTCCTGTAGGAAGCAACCAGTCTCGATCTGGCCCAATCTCTCC,C>T,Q>*,stop-gained,ARID1B
rs398123219,X,-,101398909,GAAATCCGACAGTACTGCAATCACTGGCGAAATTTTGCTGACATTGATGAT,G>A,W>*,stop-gained,GLA
rs398123126,7,+,66086763,CCACAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGCTGGAGGT,C>T,R>*,stop-gained,ASL
rs121908325,1,+,25557214,GGTGTTTGCATACATCGCCCAGAGCCAGCACAACCAGAGCCTCGAGTGCCA,C>T,Q>*,stop-gained,LDLRAP1
rs1085307118,22,+,18169868,GGAGGACGCCCTGCACTGCTTCTTCCAGCCCAGGGAGTTATCAAGCAAAAG,C>T,Q>*,stop-gained,USP18
rs769259446,10,+,70868394,ATACTGATGGCCTGCAAAGCATATCGGGATCTGGCCTTTGAGAAGGGGATC,G>A,R>Q,missense,SGPL1
rs121918662,5,-,1279341,TATCCACAGGGCCTGGCGCACCTTCGTGCTGCGTGTGCGGGCCCAGGACCC,G>A,V>M,missense,TERT
rs121912847,3,-,48581271,TGGCCCCCCAGGACCTGTTGGCCCCCGAGGACGAGATGTAAGAGGCTGGAG,C>T,R>*,stop-gained,COL7A1
rs374851540,18,-,7026037,GCCCGGCTTCTACGGGGAGCCTTCCCGAGGGACACCTGGGGACTGCCAGCC,C>T,R>*,stop-gained,LAMA1
rs1085307906,9,+,35800397,ACTCTTTTCTGTCTTAGGTGTAACTGGGCTGGTTGTCATGGACAAGAACAA,G>A,G>R,missense,NPR2
rs730880538,11,-,47342900,GCTCATCACGCGCCCCTTGGAGGACCAGCTGGTGATGGTGGGGCAGCGGGT,C>T,Q>*,stop-gained,MYBPC3
rs768526453,9,-,101362924,ATTTACCTAAAGCAAGTCACAGCCACGGTACTTATTAATGGGACCAACTTT,C>T,T>M,missense,BAAT
rs201037487,19,+,38407003,CTCCATTGCACACGTTCTGGCTGCCCGAGCCGACCTGTCTTGTCTCGTCCC,C>T,R>*,stop-gained,FAM98C
rs200440128,6,-,98926925,GTTTTATTATATATGCCTTCGGCGCCGAGCCAGGACAGCTACAAGAGGAGA,C>T,R>*,stop-gained,FBXL4
rs141103838,6,-,52024676,GTGCGTGGTCCCTTCCCTTCCGGCCGGGGAGTACCACGTCAGAGGCTATGA,G>A,G>R,missense,PKHD1
rs1028250483,1,+,156175179,GAGCTGTGTGGACTGTGTCCTTGCCCGGGACCCCCACTGTGCCTGGGACCC,C>T,R>W,missense,SEMA4A
rs121964882,20,-,3083037,CTACCTGCCGTCGCCCTGCCAGTCCGGCCAGAAGGCGTGCGGGAGCGGGGG,G>A,G>S,missense,AVP
rs528722713,1,-,152307637,TGGACGTTCAGGGTCTTTCCTCTACCAGGTGAGCACTCATGAACAGTCTGA,C>T,Q>*,stop-gained,FLG
rs772217003,1,-,6469238,TGTACCCCAACCTTGCCTGCAGAACCAGCTGCAACAGCTGCGTGCACAGGA,C>T,Q>*,stop-gained,PLEKHG5
rs886037723,14,-,95094148,ACTTCGGATCCCCTCAGATTGTTACCAGCGCTTAGAATTCCTGGGAGATGC,C>T,Q>*,stop-gained,DICER1
rs1064796593,7,+,94414258,CCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAA,G>A,G>S,missense,COL1A2
rs119485089,16,+,81365423,GGGAGTCCGAAGTCGTGAGGACGCCCAGGGTAGCGAGATGGTAACTTGCAA,C>T,Q>*,stop-gained,GAN
rs757808215,19,+,11106640,ATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGC,G>A,R>Q,missense,LDLR
rs761860059_1,22,-,50627285,GACCGTGGCCGAAGTCCTGGCTGCCCGAGGCTACCTCACAGGAATGGCCGG,C>T,R>*,stop-gained,ARSA
rs764883927,22,+,20055980,AGACGTCATTTGCTACTATGGGAACCGAGGGGAGCCTGATCCTATCGTTTT,C>T,R>*,stop-gained,TANGO2
rs397514640,11,-,31802733,TGTAGAGCTAGCTCACAGCGGGGCCCGGCCGTGCGACATTTCCCGAATTCT,C>T,R>W,missense,PAX6
rs778886174,2,+,227245990,CAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAA,G>A,G>S,missense,COL4A3
rs45517396,16,+,2088119,CCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAG,C>T,Q>*,stop-gained,TSC2
rs199472702,11,+,2570754,TGCCCGGAAGCCCATTTCCATCATCGGTGAGTCATGCCTGCCCTGTGGAGG,G>A,D>N,missense,KCNQ1
rs1815739,11,+,66560624,CAAGGCAACACTGCCCGAGGCTGACCGAGAGCGAGGTGCCATCATGGGCAT,C>T,R>*,stop-gained,ACTN3
rs34315806,4,+,3160307,GTCACGCTGGATCTTCAGAACAGCACGGAAAAGTTTGGAGGGTTTCTCCGC,C>T,T>M,missense,HTT
rs1064795618,20,-,63497693,GTGGACTCCGGAAAGTCCACCACCACGGGCCACCTCATCTACAAATGCGGA,C>T,T>M,missense,EEF1A2
rs886042091,2,+,71590246,CTACCATCTACGCTGCTACATGTACCAGGCCCGGGACCTGGCTGCGATGGA,C>T,Q>*,stop-gained,DYSF
rs745663149,8,+,74360199,GTATTACCCACGGGTACAACATTACCGAGAGCTGCTTGACTCCTTGCCAAT,C>T,R>*,stop-gained,GDAP1
rs1057516488,9,-,95107082,GCTCCTGGAGGCCACACGATCGCCTGGGATGTCATCACCCTGGTAAGTCTC,G>A,W>*,stop-gained,FANCC
rs121909793,12,-,47865085,AACCGACGCCACTGCCAGGCCTGCCGGCTCAAACGCTGTGTGGACATCGGC,G>A,R>Q,missense,VDR
rs146124466,8,-,142875767,CGCAGCCAGCATCAGTGAACATCCCCAGAAGGCAACCACCGAGCTGCCCTT,C>T,Q>*,stop-gained,CYP11B1
rs1057519573,10,+,68197407,AGAGCCCCTACAGGAACGCTTTTTCCGACCACATTTCCTGCAGGCTCCTGG,C>T,R>*,stop-gained,MYPN
rs119458971,15,-,76292436,CATCTGTGCTGGAGCATCTGCCTTCGGAAAGGTGAGAAGGTTGAGAATGTG,G>A,G>R,missense,ETFA
rs121918390,2,-,21009304,AGAGACCCTAGAAGATACACGAGACCGAATGTATCAAATGGACATTCAGCA,C>T,R>*,stop-gained,APOB
rs773095419,1,+,99888024,GGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGA,C>T,R>*,stop-gained,AGL
rs876661061,20,-,10642494,TCCAGGGCACAGTGGTGCCAAGTGCCAGGAAGGTATGTGTGCCAGGCTTCA,C>T,Q>*,stop-gained,JAG1
rs398123734,12,-,49022633,ATCGAGTACATTGGCACCATCATTCGGAACGAGGTGGCCAACCGGCGGGAG,G>A,R>Q,missense,KMT2D
rs754637718,12,-,53320565,GTGTGGAAGAGATGCATCAACATTTGGTGAGGCATGGCAAAGGGTTTCCTG,G>A,W>*,stop-gained,AAAS
rs121908766_1,7,+,117627765,CATTTCCTTCTCAATAAGTCCTGGCCAGAGGGTGAGATTTGAACACTGCTT,C>T,Q>*,stop-gained,CFTR
rs72653780_1,16,-,16182887,CCAGGGCTGTCTGCTGGCTGTTGTCGGTCCAGTGGGGGCAGGGAAGTCCTC,G>A,G>S,missense,ABCC6
rs202160208,3,-,49722056,GTGGTCGAAGATGGTGTGTGTATCCGGCGGTGCACGGTGCTGCGGGATGCC,G>A,R>Q,missense,GMPPB
rs33991059_0,11,-,5226779,CTTAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTT,G>A,W>*,stop-gained,HBB
rs119480073_1,2,+,11819590,ACCCTTTTATGCTGCTTTTGGAAACCGACCAGCTGTAAGTAGTAGATTGGG,C>T,R>*,stop-gained,LPIN1
rs397515407,9,+,135765188,CTGAACGAGTTCTACGCCCACCCCCGGCTCCAGGTGAGGCCCCTTACCGTG,G>A,R>Q,missense,KCNT1
rs111033705,9,+,34647944,CTCAGTCACAGAGGAGCTGGGTGCCCAGTACCCTTGGGTGCAGGTTTGTGA,C>T,Q>*,stop-gained,GALT
rs1349849938,14,+,67725161,GGGGGAGTCTGCTGCCAGTGAAATCCGAGTGGATACAAAGAACTCCCAGGT,C>T,R>*,stop-gained,RDH12
rs104894652,17,-,74922961,GAGGATGGCATGACCCCCACTCTCTGGGCTGCCTACCATGGCAACCTCGAG,G>A,W>*,stop-gained,USH1G
rs397515423,1,+,63654374,CACAGATGGTTCTCGAATCGTCTTCCGACTGAGCGGCACTGGGAGTGCCGG,C>T,R>*,stop-gained,PGM1
rs61749409,1,-,94062710,CAGAGCTGATCCCGTGGAAGATTTCCGGTACATCTGGGGCGGGTTTGCCTA,C>T,R>W,missense,ABCA4
rs28939073,14,-,91877621,AGACCAGCCCTTTACCATCTTGTACCGGGACATGGACGTGGTGTCAGGACG,C>T,R>W,missense,FBLN5
rs121907962,15,-,72355562,CTCTGAGACTGTCTGGGGAGCTCTCCGAGGTAACAAATTGGGGCTGATTAA,C>T,R>*,stop-gained,HEXA
rs573951598,2,+,218814408,CTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGT,C>T,R>W,missense,CYP27A1
rs121918226,20,+,18524980,GCCAGCCATGCCCATGCAGCAAGCACGACCTGCACAACCACAGGAGCACCC,C>T,R>*,stop-gained,SEC23B
rs767409395,17,+,80104704,ACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCCCCAGT,C>T,R>*,stop-gained,GAA
rs199800166,16,-,89283858,GAGAGGAGGCGGGACAGCCGGGCCCGGGAGAAGCGAGACTACAGAGAGCCC,G>A,R>Q,missense,ANKRD11
rs200086262,20,+,3221881,CCCAGAGGCTGCCAGGACTTTGGCTGGGACCCCTGCTTTCAGCCTGATGGA,G>A,W>*,stop-gained,ITPA
rs121909764,11,-,71438980,CAAGCTGTTCTTCAATGGGCGCCCCGGGATCGTCGCCTGGACCCTCATCAA,G>A,G>R,missense,DHCR7
rs886041250,14,-,24261824,GAGCTCGCGCTCGGACCAGAACCGCCGAGAGCACCACACAGACGAGTATGA,C>T,R>*,stop-gained,TGM1
rs111033380,7,+,107674337,TGCCAGTGCCCTGACTCTGCTGGTTGGAATTATACAGGTAATGAACTTACA,G>A,G>R,missense,SLC26A4
rs137853067,1,-,160041938,CAATGGCAAGCCCTGCCTCATGATCCGAGTTGCCAATATGCGCAAAAGCCT,C>T,R>*,stop-gained,KCNJ10
rs876661096,20,-,10652483,CCTCTGTGAGACCAACTGGGGCGGCCAGCTCTGTGACAAAGGTATGGCCCT,C>T,Q>*,stop-gained,JAG1
rs1057520275,2,+,219421533,CTGGATGTGGAGATTGCCACCTACCGGAAGCTGCTGGAGGGAGAGGAGAGC,G>A,R>Q,missense,DES
rs1060501135,3,-,38581226,CTGCGCTTTGTCAAGCGGACCACCTGGGATTTCTGCTGTGGTCTCCTGCGG,G>A,W>*,stop-gained,SCN5A
rs730880637,11,-,47343514,TGAGGTCAAATGGCTCAAGAATGGCCAGGAGATCCAGATGAGCGGCAGGTG,C>T,Q>*,stop-gained,MYBPC3
rs397508168,7,+,117504314,GCGCCTGGAATTGTCAGACATATACCAAATCCCTTCTGTTGATTCTGCTGA,C>T,Q>*,stop-gained,CFTR
rs387906648,6,-,10803886,TTTGTTCTCTATTTTCATAGGTATCGTGCCCCTGAAGTTTTACTGAGATCT,G>A,R>H,missense,MAK
rs587781430,2,-,214781141,GCAAAAGCTGGTATCCTTCTGTAGCCAACCATCTGTTATCTCCAGTCCTCA,C>T,Q>*,stop-gained,BARD1
rs878853009,4,+,78534471,TAGATTCCTGATACCCATTGCATTCCAGCAGACCAACCGCCCTGTGCCAGT,C>T,Q>*,stop-gained,FRAS1
rs113993998,7,-,66988472,ATGTCTGATTGACCCGGGCTGCTTCCGAGAAATTGATGAGCTAATAAAAAA,C>T,R>*,stop-gained,SBDS
rs878864531,11,+,77205562,CCACGTGCAGCGCTTCCTGCAGTCCCGAAAGCACTGCCCACTCGCCATCGA,C>T,R>*,stop-gained,MYO7A
rs121912512,7,-,150950311,CGAGGGGCCACCAAGGGCTGCCTTCGGGCCCTGGCCATGAAGTTCAAGACC,G>A,R>Q,missense,KCNH2
rs786202439,16,-,23630224,GGAGCCCTTTGAGTCAAAAATGTTTGGAGAGAGACATCTTAAAGAGGGAAG,G>A,G>R,missense,PALB2
rs967111310,2,-,135907341,GTTCGTCAGACCTCCATGTTCCCTCGTGATCCCAAACGACTCACTCCTTAA,G>A,R>H,missense,DARS
rs879254866_0,19,+,11113419,GAGGTGGCCAGCAATAGAATCTACTGGTCTGACCTGTCCCAGAGAATGATC,G>A,W>*,stop-gained,LDLR
rs398122863_0,1,+,207474297,TGTCAAGATGCTGAAAATGGAATTTGGTTCAAAAAGATTCCACTTTGTAAA,G>A,W>*,stop-gained,CR2
rs267607512,17,-,44911237,GAAGCTGCTAGAGGGCGAGGAGAACCGGTGAGCCCTCATCACAGCCCCTGG,C>T,R>W,missense,GFAP
rs63751326,2,+,47410304,CTCCAATCTTGAGGCTCTCCTCATCCAGATTGGACCAAAGGAATGTGTTTT,C>T,Q>*,stop-gained,MSH2
rs151344631,11,+,2571333,TCTCCTGCACTCCACAGACCTCATCGTGGTCGTGGCCTCCATGGTGGTCCT,G>A,V>M,missense,KCNQ1
rs368790049,2,-,26460204,CGCTCTCTACCCTTCATACTCCAGCCGGCCCGACACGAGCTTCATCTGGTT,C>T,R>W,missense,OTOF
rs80356782,11,-,68804077,GGGTATGGTCAAGATCTTTTCAGGCCGAAAACCCATGTTGTACAGCTTCCA,C>T,R>*,stop-gained,CPT1A
rs121912838,3,-,48575428,GGAGAGGGGCCCCCCCGGGCCTTCCGGCCTTGCCGGGGAGCCTGGAAAGCC,G>A,G>S,missense,COL7A1
rs61732609,22,-,42627674,TCTCTCCCCAGGGAAGTTCGCCATCCGACCTGACAAAAAGTCCAACCCTAT,C>T,R>*,stop-gained,CYB5R3
rs80338773,17,-,28402277,GTCATTAGTCATCACACCTGTCATCCGGGCTAAACTCTCCAAGCTGGTGAG,C>T,R>W,missense,SLC46A1
rs770551610,7,+,50382603,TTCACCCAGAAGGGCAACCTGCTCCGGCACATCAAGCTGCATTCCGGGGAG,G>A,R>Q,missense,IKZF1
rs398122843,3,+,46901797,TTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAG,G>A,R>Q,missense,PTH1R
rs752097874_1,15,-,23645747,AGCCGTGCAAATCCAGCTACCCCCCCAGCAGGCCCAGGCATCGGGTCCGCA,C>T,Q>*,stop-gained,MAGEL2
rs201714423,7,+,143331615,GCATCGCCAAGTCATGCTCGGTGTCCGAAAGCACAAGGCCCTCAGCCAGTT,C>T,R>*,stop-gained,CLCN1
rs775971666,11,+,103303183,GAACCCATCTTGATAATTATTTCTCCGGGTGCTGATCCTTCTCAGGAACTT,C>T,P>L,missense,DYNC2H1
rs34813378,1,+,22661354,GGAGGGTGCCAACAGCATCTTTTCCGGGTTCCTGCTCTTTCCAGATATGGA,G>A,G>R,missense,C1QB
rs879253939,1,+,12004029,GGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCT,C>T,R>*,stop-gained,MFN2
rs797044888,1,+,46267600,CAGCTTGGTACATTTTGTTAATTCCGGCATCCTAGGTAAGAATCTAGCCTT,G>A,G>S,missense,RAD54L
rs63750909_2,2,+,47799427,GGTGCAGAAGGGCTATAAAGTAGCACGAGTGGAACAGACTGAGACTCCAGA,C>T,R>*,stop-gained,MSH6
rs137852288,X,-,18893579,TGCCACTTCTTTTATGACAGCGCTCCGAGTGGGGCTTATGGGACGATGACC,C>T,P>L,missense,PHKA2
rs28930068,1,-,201053538,TCCAGCGCCTTCTTCCGCCTGTTCCGTGTCATGAGGCTGATCAAGCTGCTG,G>A,R>H,missense,CACNA1S
rs119485092,16,+,81354535,GCTGCTGAGAACTGTATTGGTATCCGTGACTTTGCACTACATTACTGCCTC,G>A,R>H,missense,GAN
rs1135401733,1,-,244856757,TGGGAAATTTATTGAGATTGCTGCCCGAAAGAAGCGAAATTTTATTCTGGA,C>T,R>*,stop-gained,HNRNPU
rs869312746,1,-,179575750,GAGGAGCGGCGGAGGCCGCGGGCGCCAGGAGGCTGGGCCCGAGCCGTCGGG,C>T,Q>*,stop-gained,NPHS2
rs1131690940,19,+,1220641,GACCAGCCAGGGCTCCCCGGCTTTCCAGCCGCCCGAGATTGCCAACGGCCT,C>T,Q>*,stop-gained,STK11
rs755218546,2,+,233767936,GTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATA,G>A,G>S,missense,UGT1A1
rs863223445,9,+,134801990,CAAGACCGGCCCTCCAGGCCCCCCCGGCGTGGTCGGCCCTCAGGTAAGCTC,G>A,G>S,missense,COL5A1
rs12720441,7,-,150950216,GCTCACCGCCCTGTACTTCATCTCCCGGGGCTCCATCGAGATCCTGCGGGG,C>T,R>W,missense,KCNH2
rs755919767,3,+,48466873,GACAAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCC,C>T,P>L,missense,TREX1
rs267606850,X,-,133536201,CGAGATAAGCACCTTTCACAACCTCGGGAACGTTCATTCCCCGCTGAAGCT,G>A,G>R,missense,GPC3
rs755952006,21,-,43066252,GGACACGATTATCGAGCCGACATCCGGGAACACCGGTGGGTGCCAGGCCCA,G>A,G>R,missense,CBS
rs121908114,8,+,74363051,TTGCAAAGAAGAAATGAAGAAACCCCAGGTAGGTTCTCATTTATATTCTTT,C>T,P>L,missense,GDAP1
rs552422789,19,+,11113308,ATCGCCTACCTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTG,G>A,R>Q,missense,LDLR
rs796053120,2,+,165344687,CATCGTCTTCATTTTTGCTGTGGTCGGCATGCAGCTCTTTGGTAAGAGCTA,G>A,G>S,missense,SCN2A
rs201785518,12,-,132729818,CTTGTTAGAGCCTTCTCCCGCAGACCAACTCGGGAATGGCCACAGGAGGAC,C>T,Q>*,stop-gained,ANKLE2
rs766551411_1,16,-,2090802,ACAGATTTCTCGTCCGCAGGCTGCCCAGCAGCTACGCTTCGTGCGCCAGTG,C>T,Q>*,stop-gained,PKD1
rs587783464,16,-,3792041,CATCTCTCATTGGAAGAACTGCACACGACATGACTGTCCTGTTTGCCTCCC,C>T,R>*,stop-gained,CREBBP
rs113993969,10,+,122506802,TCAAAACACAGTCACCACCGGGATCGTGAGCACCACCCAGCGAGGCGGCAA,G>A,V>M,missense,HTRA1
rs1057519220,11,-,2169670,GGCCACCAAGCCCTCGGCGCTGTCCCGAGCTGTGAAGGTGTTTGAGGTGAG,C>T,R>*,stop-gained,TH
rs104894018_1,7,-,27095837,TGGCGACTCGGGGACCTGCTCAGCCCGAGCCTACCCCTCGGACCATAGGAT,C>T,R>*,stop-gained,HOXA1
rs772038362,18,+,23939301,TGCTTGCTCACCACTTCCCAAGACCCAGGCCAATCATGGAGCCCTCCAGTT,C>T,Q>*,stop-gained,LAMA3
rs139021548_1,2,-,27485431,CAAATTTGCTGTCTGCACAGTGGACCGAGTGGTCTTGCTGTATGATGAACA,C>T,R>*,stop-gained,IFT172
rs794728585,19,+,11100333,GTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTT,C>T,Q>*,stop-gained,LDLR
rs118204429_1,9,-,101429901,CACTGAAGAGAACCGCCGGCAGTTCCGAGAAATCCTCTTCTCTGTGGACAG,C>T,R>*,stop-gained,ALDOB
rs104894195_1,11,+,67490910,CCCAGCCCTGGCGCCTGTGGTGAGCCGAGAGCTGCGGGCCCTGGAGGCACG,C>T,R>*,stop-gained,AIP
rs730880294,3,+,12503644,CTGCAAACAAGATGCTCTCATCCTCCAGCGTGGCCTTCATCATGAAGACGG,C>T,Q>*,stop-gained,TSEN2
rs104893944_1,6,+,131576666,ACTTTATTTTTTAATTGTTCAGCCACGAGGAGGGGTGGAAGAAGGCCCTAC,C>T,R>*,stop-gained,ARG1
rs67294955,X,+,38403660,GAAAGGTCTTACCCTCAGCTGGATCGGGGATGGGAACAATATCCTGCACTC,G>A,G>R,missense,OTC
rs1085307772,11,+,118505025,ACCTGTTTCCCCAACTGTTCCCATCCAGAACCAGAAGTATGTGCCCAATTC,C>T,Q>*,stop-gained,KMT2A
rs121912852,3,-,48570304,CCCTGGAGTAGGGCTGCCTGGGCCCCGAGGCGAGCGTGGGGAGCCAGGCAT,C>T,R>*,stop-gained,COL7A1
rs771186398,1,+,11950406,GCCCCGGGAGCTCCTGAAGAAGTTCCGGCAGGCCAGGAGCCAGGTGGTCTT,C>T,R>W,missense,PLOD1
rs727505374,X,-,8539744,TGGCATTATAGATCCCACTGTCAACCGATATCATGTGCGGTGGTTTCCTGA,C>T,R>*,stop-gained,ANOS1
rs80356593,2,-,26477210,GGTGCGGGACAAGCTGAGGCTGTGCCAGAACTTCCTGCAGAAGCTGCGCTT,C>T,Q>*,stop-gained,OTOF
rs1184563885,11,-,6614892,TGGCTTTCTCAACCCAAGGCTCTACCAGCAGCATGGGGCAGGACTCTTTGA,C>T,Q>*,stop-gained,TPP1
rs879253931,12,-,13567084,CGAACACCTTTTCTATTGGCAGTTCCGACATTGCTTTATGGGTGTCTGTTC,C>T,R>*,stop-gained,GRIN2B
rs1479498379,11,-,47447973,CAGGGCAGGTGCCCAGCTCGGAGGCCAGGTCAGCCTGAGCATGGGCAATGC,C>T,Q>*,stop-gained,RAPSN
rs869025601,16,-,88715960,ATTTTCAGTGACAAGGTCAGCCCACCGAGCCTCGGCTTCCTGGCTGGCTAC,C>T,P>L,missense,PIEZO1
rs1064797188_0,14,+,64003330,CCTACTGTTCCAGCTGTGAAACATCGGTAAGTATTGTCCATCCATTTCCAT,G>A,R>Q,missense,SYNE2
rs1057518956,10,+,31520308,TTCAGCATCACCAGGCAGTCCCACACGACCACAGATACGGCAAAAGATAGA,C>T,R>*,stop-gained,ZEB1
rs387907311,11,+,117381864,CAGCCTCAGCCTGCAGCTGTCCCTCCAGAGGTAAGGATGAGGGGAAGCATC,C>T,Q>*,stop-gained,CEP164
rs199473362_1,21,-,34449343,GAAGGACAAGGCCTATGTCCAGGCCCGGGTCCTGGAGAGCTACAGGTCGTG,C>T,R>W,missense,KCNE1
rs146919762,5,+,177387833,CGGCACCTCTGTCACCAACACCATCGTGGCCCTGATGCAGGCGGGGGACAG,G>A,V>M,missense,SLC34A1
rs766920075,6,+,129486534,GGAAGTGCATCTCTCCACAGGGGCACGAACAATGAGGAAAATTGTGATCAG,C>T,R>*,stop-gained,LAMA2
rs200529020,10,+,97598894,GAACAGGCTCCTGCTAGCTGGCTCCGGATGCGAGTGTGAGCCAGAATGCCC,G>A,G>R,missense,HOGA1
rs876661324,2,+,120968860,GCTAGTGGCCTACATCAACAACTCCCGAAGCAGCTCGGCGGCCAGCGGTTC,C>T,R>*,stop-gained,GLI2
rs142253670,1,-,94008252,CCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTAC,G>A,G>R,missense,ABCA4
rs137852493,X,+,134498431,ACCCCACGAAGTGTTGGATATAAGCCAGACTGTAAGTGAATTACTTTTTTT,C>T,P>L,missense,HPRT1
rs727503887,1,+,53210560,CCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCA,C>T,R>*,stop-gained,CPT2
rs104894642,17,-,80214738,ATCATCGGGAAGAAGCACGTGGGGCCGGAGACCGTGTACCCGTTTGACTTT,C>T,P>L,missense,SGSH
rs796052621,20,-,63444756,AACGTCTTTGCCACATCTGCGCTCCGGAGCCTGCGCTTCCTGCAGATTCTG,G>A,R>Q,missense,KCNQ2
rs748847284_1,2,-,61840157,GGATCCAGAGTATAAGAAGAAATTCCGAGCCAATCCAGTTCCTGCATCTGT,C>T,R>*,stop-gained,FAM161A
rs745990956,20,-,25300853,CCTGGGGAAGTCGGAGCCTGAGCACCAGCACTGAGCCTGGCCGTGGGAAGG,C>T,Q>*,stop-gained,ABHD12
rs1131691679,7,-,2543590,GTGGACCTGCTTCTCTGTGTGGCTCGGTCAGGGCCCCGGGACGCAGCTGGG,G>A,R>H,missense,BRAT1
rs121918042,4,+,88046712,GCAATTTCAGCCTTTAAAGCTGATCCGATATGTCACAACTTTTGATTTCTT,C>T,R>*,stop-gained,PKD2
rs540255320,14,+,58482712,CTTCAACAAATGAAACATATTTGCCGGTATGGGGAATTTTTGAGACATTTA,G>A,P>P,synonymous-codon,KIAA0586
rs794728199,15,-,48489980,CATGGACGCCTGCTGCTGCTCCGTCGGGGCAGCCTGGGGTACTGAGGAATG,G>A,G>R,missense,FBN1
rs917630768,17,+,3659895,TTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGCAACGTGCTCCTGGAC,G>A,W>*,stop-gained,CTNS
rs587782528,17,+,58692740,GGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAGGT,C>T,Q>*,stop-gained,RAD51C
rs45517412,16,+,2088293,TATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCG,C>T,R>W,missense,TSC2
rs750903875,7,-,152660773,TCTCTTCTTTTATAAGCTCCTTGCCCGACTTGAAGGTAGAAGTTCCTTGAA,C>T,R>*,stop-gained,XRCC2
rs587783318,13,-,51935678,TTCCCCAGGTGTCTTCATGCCCATCGGCATTGTGCTGCAGCCCTGGATGGG,G>A,G>S,missense,ATP7B
rs876659319,16,-,23637946,CTGTTTTTGTCTCCTCTAGCGTGCCCAAAGAGCTGAAAAGATTAAGCATTC,C>T,Q>*,stop-gained,PALB2
rs202138002,12,+,132621535,TCTGGCCACAGCTCTGACTTCCGTCGGGGTGGTAAGGAACCCTCTCTGGGG,G>A,G>R,missense,P2RX2
rs531225271,13,+,113118758,AAGGTGGGAGACTCCCCAAATATCACGGAGTACATGTTCTGTGCCGGCTAC,C>T,T>M,missense,F7
rs1057518766,21,+,45505372,CTCTCCTGCAGCTATCAGCGTTCCCGGCCCTCCGGGCCCCCCTGGGCCCCC,G>A,G>S,missense,COL18A1
rs1323153568,8,+,74364219,TCTGCAGTGCTGCCAACAGCATTCCGGGTGGCCAAGAAAAGGGCCCCAAAA,G>A,R>Q,missense,GDAP1
rs61749410,1,-,94062709,AGAGCTGATCCCGTGGAAGATTTCCGGTACATCTGGGGCGGGTTTGCCTAT,G>A,R>Q,missense,ABCA4
rs72658143,7,+,94416441,TCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCG,G>A,G>S,missense,COL1A2
rs1060503386,6,+,33440913,GGAGTACCCAGATGAGCAGACCTCACGAACCCTCACCCTCATTGCCAAGGT,C>T,R>*,stop-gained,SYNGAP1
rs753780877_1,15,-,63656210,CATGGCTAGCACCTCAGAACGATCACGAGGTGGGCATAGCAAGGCTAACAA,C>T,R>*,stop-gained,HERC1
rs886044647,12,+,80302673,TTTTCTGGAAAACAAATCTACCTACCAGCTTTGGAAGGCTGGTTACTATAT,C>T,Q>*,stop-gained,OTOGL
rs724159946,12,+,11884541,GAGGACAAAGAATCCAAAATATTCCGGATAGTGGATCCCAACGGACTGGCT,G>A,R>Q,missense,ETV6
rs199476094,16,-,2090688,GGTGGTGCTCGGGGTAGCCTACGCCCAGCTGGCCATCCTGGTAGGTGACTG,C>T,Q>*,stop-gained,PKD1
rs886039559,X,-,49224798,GCAGCCCTTGGGCATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGGATCTT,C>T,R>*,stop-gained,CACNA1F
rs781540455_1,2,-,178575970,CAAAGATAACATCAACCTGAAAAACCGAGCCAACATTGAAAATACGGAATC,C>T,R>*,stop-gained,TTN
rs148395034_1,1,-,26058482,GCTTAGCTTCATCGAGGCCCTCATCCAGCAGTACCAGGAGCAGCTGGACAA,C>T,Q>*,stop-gained,TRIM63
rs1057518851,2,-,178571565,AAACGGGACACTTCCACAACCACCTGGCAAATTGTATCAGCTACAGTTGCA,G>A,W>*,stop-gained,TTN
rs794726873,17,-,50201423,CCAAGAGGAAGGCCAAGTCGAGGGCCAAGACGAAGACAGTAAGTCCCAAAC,C>T,Q>*,stop-gained,COL1A1
rs1057520739,5,-,78781863,AGACATGGAAATTGGAAACTCCTCACGGGCTACCCAGGTAGAGTCCTTAGC,C>T,T>M,missense,ARSB
rs41270025,1,+,161168463,TCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGT,G>A,R>H,missense,PPOX
rs774456344,3,+,158649156,AGCCATCTATTTTGATGGAGACTTTGGGTAAGTGCTAAAAATACATTATTA,G>A,G>R,missense,GFM1
rs121908006,12,+,120738859,CATGGCCCTGGCCCTGGAGAGTGCCCGGCTGCTGACCTGGCGCGCTGCCAT,C>T,R>W,missense,ACADS
rs139811782,1,+,21561198,GCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCAT,G>A,V>M,missense,ALPL
rs104894912,X,+,154154734,CTACCTCCAAGTGTGGCTGGCCATCCGAGCGGTAAGCCCCCCGATTCCTCC,C>T,R>*,stop-gained,OPN1LW
rs121912467_1,17,+,75752221,AGTGCTGGTTGACAACCCTAAGAACCGGATGCTGCTTATTGAGAACCTTCG,C>T,R>W,missense,ITGB4
rs72549325_0,1,+,171107795,CTTTGATGCTGTAATGGTTTGTTCCGGACATCATGTGTATCCCAACCTACC,G>A,G>R,missense,FMO3
rs1000886583,1,-,54758779,CCCAGCCTCAGCCCGGCAGAGCTCTGGCAAGCCACCAACCGGTGGGACTTG,G>A,W>*,stop-gained,PARS2
rs782190413,9,-,133352708,CAGGAAGAAAGTGAATCCTGAAACCCGGCAGAAAGGCCAGGTAAGGGACAT,C>T,R>W,missense,SURF1
rs193922402,11,-,17395611,CCCCGTCCTCTTCAGCGGCACCATCCGGTGAGCCCCACCACCCCTCAGGCC,C>T,R>*,stop-gained,ABCC8
rs727503220,11,-,47350565,TGCCCCTGCCCCTGCTGAGGCCACTGGAGCCCCTGGAGAAGCCCCGGCCCC,G>A,G>R,missense,MYBPC3
rs879254027_0,17,-,43092641,ATCTCAGTTCAGAGGCAACGAAACTGGACTCATTACTCCAAATAAACATGG,G>A,G>R,missense,BRCA1
rs1057519513,3,+,9745904,TCTGGACCTCGTGTGGGCCAAATGCCGAGGCTATCCATCATACCCAGCTCT,C>T,R>*,stop-gained,BRPF1
rs201987973,19,-,29702923,TGGATGACAAGTGGACAGTTTAAGCCGGTTCCTCAGATCCTAATGGAGCTG,C>T,P>L,missense,C19orf12
rs745976989,4,-,177438779,GCTTCTCAAGCTCTTCATTCAGATTGGCTTGCTCGGAATTGCCAGCCAAAT,G>A,W>*,stop-gained,AGA
rs201186470,20,+,57563691,CCCCGGGTGGAAGGTTGAGTGCGTCGGGGATGACATTGCCTGGATGAAGTT,G>A,G>R,missense,PCK1
rs398122909,X,-,72462051,GGCTCGATGCTGGACATACTTGACCGGGGTCATCCTAGGGAAAACACTATC,G>A,G>R,missense,HDAC8
rs137853204,9,-,127872779,GTATGGCTACACCCACCTCTCCACCGGGGACCTCCTGCGGTCCGAGGTCAG,G>A,G>R,missense,AK1
rs72551362,3,+,12416836,CTTTCAGGGCTGCCAGTTTCGCTCCGTGGAGGCTGTGCAGGAGATCACAGA,G>A,V>M,missense,PPARG
rs1057519345,19,-,40714532,GCCCTGGGGCCTGGGCCCCACCGCTGGGTAAGAGGCTAGGGAGCAGGTCCC,G>A,W>*,stop-gained,COQ8B
rs587777219,20,-,63442428,GAGAACGACCACTTTGACACCTACGCGGATGCACTCTGGTGGGGCCTGGTG,C>T,A>V,missense,KCNQ2
rs57920071,1,+,156136984,TGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAA,C>T,R>W,missense,LMNA
rs370828455,14,-,67782971,AGTCTGGCAGTGAATCTCTGTGGTTGGGCCAGTCTTTCTACCGTTCTCCTG,G>A,W>*,stop-gained,ZFYVE26
rs587779467_1,2,+,189010201,AGGAGAATACTGGGTTGACCCTAACCAAGGATGCAAATTGGATGCTATCAA,C>T,Q>*,stop-gained,COL3A1
rs758026399,12,+,109586765,GTTTTTCTCTTTAGGAGGAGCCCTCCGATACCATCAAGGGAAGATTTCATC,C>T,R>*,stop-gained,MVK
rs387907348,14,-,68925641,ACGGCATGGTGTAACTCCCACCTCCGGAAGGCGGGGACACAGATCGAGAAC,G>A,R>Q,missense,ACTN1
rs370356566,5,+,157471733,GCTGGGCTGTGTGATCTGTGTGGCCGGAAGCACAGTGATGGTGATACATGC,G>A,G>R,missense,NIPAL4
rs375781731,19,-,49865135,GTTCACCGCAGCTGGGGTGAAACCCCAGGGCAAGGTGAGGGCCACGCCGAG,C>T,Q>*,stop-gained,PNKP
rs1345325140,6,-,98926544,ACATGTTCTAGAAACCTATCATCCCGGAGCAGTCATTAGAATTCTCGCTTG,G>A,G>R,missense,FBXL4
rs1060500457,2,-,178553039,TCTCGAGGCACAGTCACTTTGCTCTGGGATCCTCCTCTCATTGATGGAGGA,G>A,W>*,stop-gained,TTN
rs879255548,3,-,13854798,CTCTTCTCTCCTCCTCGCAGGGAGCCGGGAGGCTGCGTTCACCTACGCCAT,C>T,R>W,missense,WNT7A
rs118204009,12,-,57764147,TACCCTGTGGTACCTGGAAATTCTCGTGTCCCAGACAAAGACATTCATGTG,G>A,R>H,missense,CYP27B1
rs9809219,5,+,251100,CCTAAAGCACCTGAAGACGTTCGACCGGGGTGAGCAGACAGTGGGCTCTGT,C>T,R>W,missense,SDHA
rs132630277,X,+,154420037,TCTACCTCCCCCCTGGGCAGGAATCGGGCGCCTGATTGCTGAGTGTCATCT,G>A,G>R,missense,TAZ
rs369804864,19,-,11577187,GGGGTCCCCAATGCCCCATTCCACACGGCCCGGGAAATGGCCAATGCCAAG,C>T,T>M,missense,ACP5
rs121908976,11,-,119028288,GGCCTGGTCAACATATTCTTTGCCTGGAGCTCCACAGTACCTGTCTTTGCT,G>A,W>*,stop-gained,SLC37A4
rs772808534,1,-,216422237,TGCTTCAATATCCTTGACTGAGTCACGAGGTCTTTTCCCAAGGCTGGAGAA,C>T,R>*,stop-gained,USH2A
rs128624224,X,+,153740155,TGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTGGGTGGGCTCTGGCCCAC,C>T,R>W,missense,ABCD1
rs746243052,2,+,71667477,CCTGGTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCC,C>T,R>W,missense,DYSF
rs1064794628,2,+,5693020,GACAGCGAGAAGATCCCGTTCATCCGGGAGGCGGAGCGGCTGCGGCTCAAG,G>A,R>Q,missense,SOX11
rs144486241,16,+,81357902,ATCGAACTGGCCCCTTTAAGCATGCCGAGAATTAACCATGGAGTTCTCTCA,C>T,P>L,missense,GAN
rs80358844,13,+,32340425,GTTTAAAAGTAACGAACATTCAGACCAGCTCACAAGAGAAGAAAATACTGC,C>T,Q>*,stop-gained,BRCA2
rs397518046,1,-,215838058,TGCCTGCGTGAAAAGCAATGGAACCCAAATTACCACTGTGGAAGACACTCC,C>T,Q>*,stop-gained,USH2A
rs773943371,9,+,128325835,GACCTGGGCAAGCTCCAGAGCCTGCCGGAAGGCTCCCTCGGTCGCGAGTAT,C>T,R>W,missense,COQ4
rs755674457,3,-,49099762,ACTCTGCACCAAGGAATTCCAGGCCCGGTGAGGGAGCTGGGTCCATGGGGT,C>T,R>*,stop-gained,QARS
rs886039386,12,+,120994261,GCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCA,C>T,R>W,missense,HNF1A
rs121964972,21,-,43060528,TCTGCAGGTGGCAGTGCTGGCAGCACGGTGGCGGTGGCCGTGAAGGCCGCG,C>T,T>M,missense,CBS
rs797044989,17,+,50074452,CTGGCTCTGTTGTCTCTGCAGGGCCCGGCCCGTCATCAACATCGTCCACAA,C>T,R>W,missense,ITGA3
rs1355062450,19,-,13212653,TGGCCAGAACGCCCTCCCCTCCACCCAGCTGGACCCAGGAGGAGCCCTGTG,C>T,Q>*,stop-gained,CACNA1A
rs137852608,2,+,98396398,CATGATCTCGAATATGAATGCCTCACGGGCAGAGTTCCAGGCCAAGATTGA,C>T,R>W,missense,CNGA3
rs587777535_1,14,+,92454034,CACCAATAAGTTTGGACCCAGGACCCGACTACGGATGGCCAGCAGGATCAT,C>T,R>*,stop-gained,SLC24A4
rs137852439,X,-,154928647,CCCCCGCAGCTTTCAAAAGAAAACACGACACTATTTTATTGCTGCAGTGGA,C>T,R>*,stop-gained,F8
rs140507581_0,13,-,23354972,AGCAAAGTCAAGGTGCACTGGCAACCGGTGTTAGAGCCTCTATTCAGCGAG,C>T,P>L,missense,SACS
rs397517255,9,-,114424483,CCTGAGCAGCCTGGGGAACCAGACACGAGTGCTGCTGGAGGAGCAGGCTCG,C>T,R>*,stop-gained,WHRN
rs119477056,3,+,111585362,CCTGTGATTGTGGAAAATAACTCCACGGATGTCTTGGTAGAGGTGAGTCAC,C>T,T>M,missense,CD96
rs397514737,5,+,162149153,ATGACCACCCTCAGCACCATTGCCCGGAAATCGCTCCCCAAGGTCTCCTAT,G>A,R>Q,missense,GABRG2
rs369398935,5,+,168516860,AAATATGCTGACCTTTCCCATAACCGGTTGAATGACTACATCTTCTCCTTT,G>A,R>Q,missense,RARS
rs869320618,3,+,129530996,GCCATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTGCGCCGCA,G>A,W>*,stop-gained,RHO
rs878854417,2,-,196225800,GTATTTGTTGGATGCCTTCTTCACACGGCCCTTTTATAAGGCTCTTCTCAG,C>T,R>W,missense,HECW2
rs539286945_1,19,-,49861679,CCCCCACAGGTACGTCCAGTGTGCCCGAGCCGCGGGCGTCCCCTGCCGCTG,C>T,R>*,stop-gained,PNKP
rs1057516467,3,-,120670530,ATCTTGTATGTTTTTCCCTCTAGCTGGCTGTATAGGATTCTACCTTCAGTT,G>A,W>*,stop-gained,HGD
rs758527425,18,-,31089461,TTGTATTGTACTCGTCCTGTAGATCGTGAGCAGTATGAATCTTTTGAGGTA,G>A,R>H,missense,DSC2
rs80356681,1,-,209632678,TCCCAGCGCCTACTATGCTGTGTCCCAGCTCCGTCTGCAGGGGAGCTGCTT,C>T,Q>*,stop-gained,LAMB3
rs281875317,22,-,50074296,AATCGCAGGCATCTCTGCCGTCCTCGGGGGGATCATTGCCCTGAACGTGGA,G>A,G>R,missense,MLC1
rs1057516232,7,+,117504255,TGTTCCTCCTCTCTTTATTTTAGCTGGACCAGACCAATTTTGAGGAAAGGA,G>A,W>*,stop-gained,CFTR
rs137852297,X,-,9743637,CTTAAAGGAAGACAAGGCATTTACACGGAGAACGAGAGGAGGATGGGAGCC,C>T,T>M,missense,GPR143